Issue 1/2020
Content (349 Articles)
The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell
Healthcare trajectory of children with rare bone disease attending pediatric emergency departments
David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire, François Angoulvant
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Jean-Michel Heard, Charlotte Vrinten, Michael Schlander, Cinzia Maria Bellettato, Corine van Lingen, Maurizio Scarpa, Gert Matthijs, Marie-Cécile Nassogne, François-Guillaume Debray, Dominique Roland, Teodora Chamova, Viktor Kozich, Jesina Pavel, Martin Zenker, Martin Zenker, Christina Lampe, Anihb Martin Das, Julia Hennermann, Stefan Kölker, Natalie Weinhold, Klaus Mohnike, Sarah Gruenert, Allan Meldgaard Lund, Montserrat Morales-Conejo, Mireia del Toro-Riera, Luis Aldámiz-Echevarría, Maria-Teresa Garcia-Silva, Manuel Schiff, Laurent Gouya, Pascale de Lonlay, Nadia Belmatoug, Dominique P. Germain, Aline Cano, Dries Dobbelaere, Simon Jones, Charlotte Dawson, Patrick Deegan, Saikat Santra, Suresh Vijay, Danijela Petkovic Ramadza, Ivo Barić, Tamara Žigman, György Pflieger, Katalin Szakszon, Rita Kaposta, Serena Gasperini, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Giovanni Ceccarini, Antonio Federico, Alessandro Simonati, Birute Tumiene, Hidde Huidekoper, Francian van Spronsen, Annet Bosch, Maria-Estela Rubio-Gozalbo, Gepke Visser, Trine Tangeraas, Aasne Aarsand, Beata Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Dulce Quelhas, Elisa Leao-Teles, Olga Azevedo, Esmeralda-Maria Ferreira Rodriges Silva, Luísa-Maria de Abreu Freire Diogo Matos, Esmeralda Martins, Svetlana Lajic, Niklas Darin, Urh Groselj, Mojca-Zerjav Tansek
Future treatments for hereditary hemorrhagic telangiectasia
Florian Robert, Agnès Desroches-Castan, Sabine Bailly, Sophie Dupuis-Girod, Jean-Jacques Feige
Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature
Olivier Dupuis, Laura Delagrange, Sophie Dupuis-Girod
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients
Hang Yang, Yanyun Ma, Mingyao Luo, Guoyan Zhu, Yinhui Zhang, Binbin Li, Chang Shu, Zhou Zhou
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study
Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider
Immunological features of patients affected by Barraquer-Simons syndrome
Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa
Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study
Sadia Jahan, Subashini Sarathchandran, Shamina Akhter, Jack Goldblatt, Samantha Stark, Douglas Crawford, Andrew Mallett, Mark Thomas
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R. Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex MacKenzie, Jennifer MacKenzie, Bruno Maranda, John J. Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K. Potter
Out-of-pocket expenses for myasthenia gravis patients in China: a study on patients insured by basic medical insurance in China, 2013–2015
Tao-yu Lin, Xiao-yan Zhang, Peng-qian Fang, Rui Min
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population
Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri, Kaiissar Mannoor
Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: the European Reference Network TransplantChild
P. Jara, A. Baker, U. Baumann, A. M. Borobia, S. Branchereu, M. Candusso, A. J. Carcas, C. Chardot, J. Cobas, L. D’Antiga, C. Ferreras, E. Fitzpatrick, E. Frauca, F. Hernández-Oliveros, P. Kaliciński, C. Lindemans, M. F. Lopes, E. López-Granados, C. de Magnée, C. Mota, J. M. Muñoz, J. J. Ojeda, A. Pérez-Martínez, G. Perilongo, J. Rascon, M. Sciveres, R. Stone, V. Tarutis, J. Toporski, J. M. Torres, L. Wennberg
European lipodystrophy registry: background and structure
Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch
Education and information needs for physicians about rare diseases in Spain
Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero, Josefa Gil-de-Gómez
Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study
Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä, Sari Atula
Evaluation of retinal microvascular perfusion in hereditary angioedema: a case-control study
Paola Triggianese, Massimo Cesareo, Maria Domenica Guarino, Paola Conigliaro, Maria Sole Chimenti, Francesca Cedola, Caterina Mazzeo, Carlo Nucci, Roberto Perricone
Asymptomatic intracranial aneurysms in beta-thalassemia: a three-year follow-up report
Renzo Manara, Martina Caiazza, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Caterina Maietta, Daniela Capalbo, Camilla Russo, Domenico Roberti, Maddalena Casale, Andrea Elefante, Fabrizio Esposito, Sara Ponticorvo, Andrea Gerardo Russo, Antonietta Canna, Mario Cirillo, Silverio Perrotta, Immacolata Tartaglione
A study of voice and non-voice processing in Prader-Willi syndrome
Kuzma Strenilkov, Jimmy Debladis, Juliette Salles, Marion Valette, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone, Maïthé Tauber
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
Johann Philipp Zöllner, David Neal Franz, Christoph Hertzberg, Rima Nabbout, Felix Rosenow, Matthias Sauter, Susanne Schubert-Bast, Adelheid Wiemer-Kruel, Adam Strzelczyk
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients
Lili Yang, Qiong Zhou, Bo Ma, Shujiong Mao, Yanli Dai, Mingqiang Zhu, Chaochun Zou
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age
Xiaolei Tang, Huimin Li, Hui Liu, Hui Xu, Haiming Yang, Jinrong Liu, Shunying Zhao
Comparison of liver MRI R2(FerriScan®) VS liver MRI T2* as a measure of body iron load in a cohort of beta thalassaemia major patients
Padmapani Padeniya, Shirom Siriwardana, Dileepa Ediriweera, Nayana Samarasinghe, Sasanka Silva, Ishari Silva, Nizri Ahamed, Madunil Niriella, Anuja Premawardhena
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria
Sara Tucci
Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain
Simon Körver, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. van Schaik, Maria G. F. Longo, Marjana R. Lima, Leonardo Vedolin, Marcel G. W. Dijkgraaf, Mirjam Langeveld
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Xiaoyu Yu, Yun Lin, Jun Xu, Tuanjie Che, Lin Li, Tao Yang, Hao Wu
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero
Molecular basis of Leigh syndrome: a current look
Manuela Schubert Baldo, Laura Vilarinho
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Ahra Cho, Jose Ronaldo Lima de Carvalho Jr, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Towards European harmonisation of healthcare for patients with rare immune disorders: outcome from the ERN RITA registries survey
Riccardo Papa, Andrew Cant, Christoph Klein, Mark A. Little, Nico M. Wulffraat, Marco Gattorno, Nicolino Ruperto
Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population
Andreea Jercan, Amalia Ene, Ruxandra Jurcut, Mirela Draghici, Sorina Badelita, Mihaela Dragomir, Camelia Dobrea, Monica Popescu, Dumitru Jardan, Emanuel Stoica, Speranta Iacob, Ionela Codita, Claudiu Stan, Daniel Coriu
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)
Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale, Pierre Wolkenstein, Henri Adamski, Clarisse Baumann-Morel, Christine Bellanné, Eric Bieth, Pascal Bousquet, Christian Brandt, Xavier Balguerie, Sébastien Barbarot, Pierre Castelnau, Yves Chaix, Jacqueline Chevrant-Breton, Evelyne Collet, Jean-François Cuny, Pascal Chastagner, Marie-Lorraine Chandeclerc, Emmanuel Cheuret, Pascal Cintas, Helene Dollfus, Christian Derancourt, Valérie Drouin-Garraud, Michel d’Incan, Hélène De Leersnyder, Olivier Dereure, Diane Doumar, Nicolas Fabre, Vincenza Ferraro, Christine Francannet, Laurence Faivre, Florence Fellmann, Nathalie Feugier Dominique Gaillard, Alice Goldenberg, Lucie Guyant-Marechal, Bernard Guillot, Jean-Sebastien Guillamo, Smaïl Hadj-Rabia, Dominique Hamel-Teillac, Isabelle Kemlin, Jean-Philippe Lacour, Veronique Laithier, Nathalie Lesavre, Stanislas Lyonnet, Kim Maincent, Sophie Maradeix, Juliette Mazereeuw-Hautier, Laurent Machet, Eva Mansat, Nicolas Meyer, Monique Mozelle, Jean Christophe Moreno Celine Moret, Eric Puzenat, Béatrice Parfait, Stéphane Pinson, Eric Pasmant, Diana Rodriguez, Jean-François Stalder, Emilie Sbidian, Elisabeth Schweitzer, Claire Thalamas, Christel Thauvin, Dominique Vidaud, Michel Vidaud, Alain Verloes, Ouidad Zehou, Jacques Zeller
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao-Chin Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee, Wuh-Liang Hwu
Kaposiform hemangioendothelioma: current knowledge and future perspectives
Yi Ji, Siyuan Chen, Kaiying Yang, Chunchao Xia, Li Li
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson
Epidemiological and advanced therapeutic approaches to treatment of uveitis in pediatric rheumatic diseases: a systematic review and meta-analysis
Mohsen Jari, Reza Shiari, Omid Salehpour, Khosro Rahmani
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Oral disorders in children with Prader-Willi syndrome: a case control study
Carla Munné-Miralvés, Lluís Brunet-Llobet, Abel Cahuana-Cárdenas, Sergi Torné-Durán, Jaume Miranda-Rius, Alejandro Rivera-Baró
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim, Han-Wook Yoo
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease
Ottavia Spiga, Vittoria Cicaloni, Cosimo Fiorini, Alfonso Trezza, Anna Visibelli, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Daniela Braconi, Filippo Prischi, Annalisa Santucci
Adverse event rates and economic burden associated with purine nucleoside analogs in patients with hairy cell leukemia: a US population-retrospective claims analysis
Narendranath Epperla, Melissa Pavilack, Temitope Olufade, Richa Bashyal, Jieni Li, Shaum M. Kabadi, Huseyin Yuce, Leslie Andritsos
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Sarah C. Grünert, Jörn Oliver Sass
The effect of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function: a systematic review and meta-analysis
Xue Wang, Chaofeng Yu, Radouil T. Tzekov, Yihua Zhu, Wensheng Li
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
C. Tornero, V. Navarro-Compán, J. A. Tenorio, S. García-Carazo, A. Buño, I. Monjo, C. Plasencia-Rodriguez, J. M. Iturzaeta, P. Lapunzina, K. E. Heath, A. Balsa, P. Aguado
Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene
Konrad Bork, Karin Wulff, Guenther Witzke, Thomas Machnig, Jochen Hardt
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, Beena Devanapalli, Sue Thompson, Troy Dalkeith, Kate Lichkus, Michel Tchan
Lack of knowledge and misperceptions about thalassaemia among college students in Bangladesh: a cross-sectional baseline study
Mohammad Sorowar Hossain, Md. Mahbub Hasan, Enayetur Raheem, Muhammad Sougatul Islam, Abdullah Al Mosabbir, Mary Petrou, Paul Telfer, Mahbubul H. Siddiqee
Equivocal expression of emotions in children with Prader-Willi syndrome: what are the consequences for emotional abilities and social adjustment?
Nawelle Famelart, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Mélanie Glattard, Catherine Molinas, Michèle Guidetti, Maithe Tauber
Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes
Taste and smell function in Wolfram syndrome
Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey, M. Yanina Pepino
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency
Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud, Nicolas Leboucq, Georges Deschênes, Denis Morin, Fanny Abad, Jacques Luauté, Eurielle Bodenan, Laurent Roche, Cécile Acquaviva, Christine Vianey-Saban, Pierre Cochat, François Cotton, Aurélia Bertholet-Thomas
A civil society view of rare disease public policy in six Latin American countries
Mo Mayrides, Eva Maria Ruiz de Castilla, Silvina Szelepski
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger, Friedrich Trefz
Combined surgery with 3-in-1 osteosynthesis in congenital pseudarthrosis of the tibia with intact fibula
Yaoxi Liu, Ge Yang, Kun Liu, Jiangyan Wu, Guanghui Zhu, Jin Tang, Yu Zheng, Haibo Mei
Gender differences in hereditary hemorrhagic telangiectasia severity
J. M. Mora-Luján, A. Iriarte, E. Alba, M. A. Sánchez-Corral, P. Cerdà, F. Cruellas, Q. Ordi, X. Corbella, J. Ribas, J. Castellote, A. Riera-Mestre
Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands
Bas J. H. van Lith, Hans C. J. W. Kerstens, Laura A. C. van den Bemd, Maria W. G. Nijhuis-van der Sanden, Vivian Weerdesteyn, Rob J. E. M. Smeets, Klemens Fheodoroff, Bart P. C. van de Warrenburg, Alexander C. H. Geurts
Cardiovascular progenitor cells and tissue plasticity are reduced in a myocardium affected by Becker muscular dystrophy
Martin Pesl, Sarka Jelinkova, Guido Caluori, Maria Holicka, Jan Krejci, Petr Nemec, Aneta Kohutova, Vita Zampachova, Petr Dvorak, Vladimir Rotrekl
Sickle cell disease induces resistance to cutaneous carcinogenesis
Boutros Soutou, Patricia Senet, François Lionnet, Anoosha Habibi, Sélim Aractingi
Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho, João Costa
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
H. A. Haijes, J. J. M. Jans, M. van der Ham, P. M. van Hasselt, N. M. Verhoeven-Duif
A roadmap to using historical controls in clinical trials – by Drug Information Association Adaptive Design Scientific Working Group (DIA-ADSWG)
Mercedeh Ghadessi, Rui Tang, Joey Zhou, Rong Liu, Chenkun Wang, Kiichiro Toyoizumi, Chaoqun Mei, Lixia Zhang, C. Q. Deng, Robert A. Beckman
Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review
Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Steve Vucic, Matthew C. Kiernan, Nadine A. Kasparian, Michelle A. Farrar
Development and validation of the prognostic value of ferritin in adult patients with Hemophagocytic Lymphohistiocytosis
Jun Zhou, Jing Zhou, Dan-Ting Shen, Hemant Goyal, Zhi-Qi Wu, Hua-Guo Xu
Effects of yoga on exercise capacity in patients with lymphangioleiomyomatosis: a nonrandomized controlled study
Xiangfeng Li, Wenshuai Xu, Lu Zhang, Yi Zu, Yu Li, Yanli Yang, Ying Xiang, Yun Xiang, Ling Chen, Wei Liu, Lixia Chen, Kai-Feng Xu
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease
Raymond Y. Wang, Kyle D. Rudser, Donald R. Dengel, Nicholas Evanoff, Julia Steinberger, Nina Movsesyan, Robert Garrett, Katherine Christensen, Deborah Boylan, Stephen R. Braddock, Marwan Shinawi, Qi Gan, Adriana M. Montaño
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China
Lina Wu, Yanmeng Li, Yi Song, Donghu Zhou, Siyu Jia, Anjian Xu, Wei Zhang, Hong You, Jidong Jia, Jian Huang, Xiaojuan Ou
Fatigability in spinal muscular atrophy: validity and reliability of endurance shuttle tests
Bart Bartels, Janke F. de Groot, Laura E. Habets, Camiel A. Wijngaarde, Wendy Vink, Marloes Stam, Fay-Lynn Asselman, Ruben P. A. van Eijk, W. Ludo van der Pol
Psychological functioning in children suspected for mitochondrial disease: the need for care
Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink, Christianne M. Verhaak
Correction to: Molecular basis of Leigh syndrome: a current look
Manuela Schubert Baldo, Laura Vilarinho
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang, Zhixian Yang
Correction to: Immunological features of patients affected by Barraquer-Simons syndrome
Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan, Göran Dahllöf
LipoDDx: a mobile application for identification of rare lipodystrophy syndromes
David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez, Sofía Sánchez-Iglesias
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures
P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt, K. G. Claeys
Longitudinal natural history of type I spinal muscular atrophy: a critical review
Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb, Richard S. Finkel
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts
Cristina Chimenti, Patrizia Nencini, Federico Pieruzzi, Sandro Feriozzi, Renzo Mignani, Maurizio Pieroni, Antonio Pisani, Yuri Battaglia, Anna Bersano, Agata Fiumara, Chiara Lanzillo, Stefania Piga, Federica Re, Marta Rubino, Maria Luisa Zedde
Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller, Ute Spiekerkoetter
Natural history of lung function in spinal muscular atrophy
Camiel A. Wijngaarde, Esther S. Veldhoen, Ruben P. A. van Eijk, Marloes Stam, Louise A. M. Otto, Fay-Lynn Asselman, Roelie M. Wösten-van Asperen, Erik H. J. Hulzebos, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Inge Cuppen, Renske I. Wadman, Leonard H. van den Berg, Cornelis K. van der Ent, W. Ludo van der Pol
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty
The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations
Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle, Nadine Le Forestier, Andoni Echaniz-Laguna, Giorgia Querin, Gianni Sorarù, Thierry Perez, Cédric Ramos, Cyril Goizet, Jean Claude Desport, Michel Pugeat, Bertrand Pichon, Sandrine Maniez, Julie Robillard, Christophe Coupe, Laurence Laurier Betram, Sandra Roy Bellina, Nathalie Lévêque, Jérôme Penot, Valérie Goutines Caramel
Increased visceral arterial tortuosity in Marfan syndrome
Bence Ágg, Bálint Szilveszter, Noémi Daradics, Kálmán Benke, Roland Stengl, Márton Kolossváry, Miklós Pólos, Tamás Radovits, Péter Ferdinandy, Béla Merkely, Pál Maurovich-Horvat, Zoltán Szabolcs
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases
Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed
Natural history of non-lethal Raine syndrome during childhood
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Diagnosis support systems for rare diseases: a scoping review
Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
The French paediatric cohort of Castleman disease: a retrospective report of 23 patients
Charlotte Borocco, Claire Ballot-Schmit, Oanez Ackermann, Nathalie Aladjidi, Jeremie Delaleu, Vannina Giacobbi-Milet, Sarah Jannier, Eric Jeziorski, François Maurier, Yves Perel, Christophe Piguet, Eric Oksenhendler, Isabelle Koné-Paut, Caroline Galeotti
Detection of alpha-1 antitrypsin deficiency: the past, present and future
Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman, Adam Wanner
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa
Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene
Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao, Xiaoqing Li
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello, Daniela Melis
Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database
Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R. Tittel, Reinhard W. Holl
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
Yueheng Wu, Yu Xia, Ping Li, Hui-Qi Qu, Yichuan Liu, Yongchao Yang, Jijin Lin, Meng Zheng, Lifeng Tian, Zhuanbin Wu, Shufang Huang, Xianyu Qin, Xianwu Zhou, Shaoxian Chen, Yanying Liu, Yonghua Wang, Xiaofeng Li, Hanshi Zeng, Hakon Hakonarson, Jian Zhuang
Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases
Davide Maraghelli, Francesca Giusti, Francesca Marini, Maria Luisa Brandi
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda
Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports
Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson, Janneke G. Langendonk
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Sarah C. Grünert, Jörn Oliver Sass
A scoping review and proposed workflow for multi-omic rare disease research
Katie Kerr, Helen McAneney, Laura J. Smyth, Caitlin Bailie, Shane McKee, Amy Jayne McKnight
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction
Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni, Tieliu Shi
The natural history of infantile neuroaxonal dystrophy
Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem, Fowzan S. Alkuraya
Reuma.pt/vasculitis – the Portuguese vasculitis registry
Cristina Ponte, Nikita Khmelinskii, Vítor Teixeira, Karine Luz, Daniela Peixoto, Marília Rodrigues, Mariana Luís, Lídia Teixeira, Sandra Sousa, Nathalie Madeira, Joana A. Aleixo, Teresa Pedrosa, Sofia Serra, Raquel Campanilho-Marques, Walter Castelão, Ana Cordeiro, Inês Cordeiro, Sílvia Fernandes, Carla Macieira, Pedro Madureira, Armando Malcata, Romana Vieira, Fernando Martins, Graça Sequeira, Jaime C. Branco, Lúcia Costa, José Vaz Patto, José Canas da Silva, José A. Pereira da Silva, Carmo Afonso, Helena Canhão, Maria J. Santos, Raashid A. Luqmani, João E. Fonseca
Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years
Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan, Duangrurdee Wattanasirichaigoon
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China
Jia Zhang, Yuan Sun, Xiaodong Shi, Rui Zhang, Yini Wang, Juan Xiao, Jing Cao, Zhuo Gao, Jingshi Wang, Lin Wu, Wei Wei, Zhao Wang
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019
Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze, Christina Lampe
Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review
Julián Solís-García del Pozo, Carlos de Cabo, Javier Solera
Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome
Ling-shan Liu, Xiao Zhang, Hao Zhao, Xue-min Gao, Dao-bin Zhou, Rong-ping Dai, Jian Li
Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, Nick Meade, Maria Newman, Stuart Ralston, Elaine Rush, Sheela Upadhyaya, Sandra Regan, Laura Watts, Jennifer Walsh, Paul White, Roger M. Francis, M. Kassim Javaid
The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States
Ilse Peterson, Rosángel Cruz, Fatou Sarr, Ann Marie Stanley, Jill Jarecki
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients
C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy, S. Marchand-Adam, C. Marquette, D. Montani, J. M. Naccache, G. Nadeau, N. Poulalhon, M. Reynaud-Gaubert, M. Salaun, B. Wallaert, J. F. Cordier, M. Faouzi, R. Lazor
Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases
Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan, Lan Zhu
Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda, Junya Toguchida
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan, Grethe Månum
Saccadic reaction time and ocular findings in phenylketonuria
Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz
Transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: the severity of cystic lung destruction assessed by the modified Goddard scoring system as a predictor for establishing the diagnosis
Shouichi Okamoto, Kazuhiro Suzuki, Takuo Hayashi, Keiko Muraki, Tetsutaro Nagaoka, Koichi Nishino, Yasuhito Sekimoto, Shinichi Sasaki, Kazuhisa Takahashi, Kuniaki Seyama
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann
TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases
Lieven Annemans, Amr Makady
Reproductive options for families at risk of Osteogenesis Imperfecta: a review
Lidiia Zhytnik, Kadri Simm, Andres Salumets, Maire Peters, Aare Märtson, Katre Maasalu
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases
Tenghui Wu, Fei Yin, Shiqi Guang, Fang He, Li Yang, Jing Peng
Randomized clinical trials in ANCA-associated vasculitis: a systematic analysis of the WHO - International Clinical Trials Registry Platform
Michele Iudici, Xavier Puéchal, Alejandro Brigante, Ignacio Atal, Cem Gabay
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun, Xiaochuan Wang
CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella
Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
Takashi Hatano, Yuki Ohno, Yu Imai, Jun Moritake, Katsuhisa Endo, Mayumi Tamari, Shin Egawa
To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases
Sally Lanar, Catherine Acquadro, James Seaton, Isabelle Savre, Benoit Arnould
The modified Atkins diet in children with Prader-Willi syndrome
Grace Felix, Eric Kossoff, Bobbie Barron, Caitlin Krekel, Elizabeth Getzoff Testa, Ann Scheimann
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients
Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier, Laurence Vaivre-Douret
Medical expenditure for patients with hemophilia in urban China: data from medical insurance information system from 2013 to 2015
Guang-wen Gong, Ying-chun Chen, Peng-qian Fang, Rui Min
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía, Antoni Riera-Mestre, C. Alonso-Cotoner, S. Añón, M. Beneyto, M. M. Bermejo-Olano, P. Cerdà, F. Cruellas, A. De Los Santos, L. Díez, A. Fernández, J. S. García-Morillo, R. Gil, J. F. Gómez-Cerezo, V. Gómez del Olmo, A. González-García, A. Iriarte, P. Iglesias, M. C. Juyol, N. López-Osle, M. López, D. López-Wolf, J. M. Mora-Luján, M. Moreno, A. Ojeda, J. L. Patier, J. A. Pérez de León, M. L. Perez, A. Riera-Mestre, S. Rivera, S. Rodríguez, R. Sánchez-Martínez, M. A. Torralba, R. Zarrabeitia
Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis
Shanat Baig, Rory Dowd, Nicola C. Edwards, James Hodson, Larissa Fabritz, Ravi Vijapurapu, Boyang Liu, Tarekegn Geberhiwot, Richard P. Steeds
Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)
Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman, Neil Oxborrow
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Salvatore Crisafulli, Janet Sultana, Andrea Fontana, Francesco Salvo, Sonia Messina, Gianluca Trifirò
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases
Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has, Christine Bodemer
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study
Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, Mauro Marzorati, Simone Porcelli, Annarita Tullio, Anna Bacco, Simona Bertoli, Andrea Dardis, Lea Biasutti, Maria Barbara Pasanisi, Grazia Devigili, Bruno Bembi
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite - Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A. A. Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka ‘Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies
The use of machine learning in rare diseases: a scoping review
Julia Schaefer, Moritz Lehne, Josef Schepers, Fabian Prasser, Sylvia Thun
DDIEM: drug database for inborn errors of metabolism
Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield, Robert Hoehndorf
Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex
Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen, Li-Ping Zou
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre
Costs of illness in amyotrophic lateral sclerosis (ALS): a cross-sectional survey in Germany
Erik Schönfelder, Alma Osmanovic, Lars Hendrik Müschen, Susanne Petri, Olivia Schreiber-Katz
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis
Keqiang Liu, Wenshuai Xu, Meng Xiao, Xinyue Zhao, Chun Bian, Qianli Zhang, Jiaxing Song, Keqi Chen, Xinlun Tian, Yaping Liu, Kai-Feng Xu, Xue Zhang
Mowat-Wilson syndrome: growth charts
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference
Kimberly Goodspeed, Geraldine Bliss, Diane Linnehan
Surgical treatment strategies for extra-pelvic intravenous leiomyomatosis
Hua Li, Jing Xu, Qiaowei Lin, Yong Zhang, Yun Zhao, Hanxing Tong, Ruiqin Tu, Demin Xu, Chunsheng Wang, Weiqi Lu
Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis
Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang, Zhi-Jun Zhu
Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome
Lu Han, Zhen Zhang, Hui Wang, Hui Song, Qing Gao, Yuchun Yan, Ran Tao, Ping Xiao, Long Li, Qian Jiang, Qi Li
Pathologic substrate of gastropathy in Anderson-Fabry disease
Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini
COVID-19 pandemia and inherited cardiomyopathies and channelopathies: a short term and long term perspective
Giuseppe Limongelli, Lia Crotti
Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study)
Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast, Jay A. Barth
Raising rare disease awareness using red flags, role play simulation and patient educators: results of a novel educational workshop on Raynaud phenomenon and systemic sclerosis
S. Sanges, M.-M. Farhat, M. Assaraf, J. Galland, E. Rivière, C. Roubille, M. Lambert, C. Yelnik, H. Maillard, V. Sobanski, G. Lefèvre, D. Launay, S. Morell-Dubois, E. Hachulla
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong
Best practice guidelines for management of spinal disorders in skeletal dysplasia
Klane K. White, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre, Ravi Savarirayan
Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition
Layla Damen, Stephany H. Donze, Renske J. Kuppens, Nienke E. Bakker, Laura C. G. de Graaff, Janielle A. E. M. van der Velden, Anita C. S. Hokken-Koelega
ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease
Kristiina Kyrklund, Cornelius E. J. Sloots, Ivo de Blaauw, Kristin Bjørnland, Udo Rolle, Duccio Cavalieri, Paola Francalanci, Fabio Fusaro, Annette Lemli, Nicole Schwarzer, Francesco Fascetti-Leon, Nikhil Thapar, Lars Søndergaard Johansen, Dominique Berrebi, Jean-Pierre Hugot, Célia Crétolle, Alice S. Brooks, Robert M. Hofstra, Tomas Wester, Mikko P. Pakarinen
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)
Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager, Guido Manfredi, Troels H. Nielsen, Fabio Pagella, Marco C. Post, Catherine Rennie, Carlo Sabbà, Patrizia Suppressa, Pernille M. Toerring, Sara Ugolini, Elisabetta Buscarini, Sophie Dupuis-Girod, Claire L. Shovlin
Non-deletional alpha thalassaemia: a review
Ibrahim Kalle Kwaifa, Mei I. Lai, Sabariah Md Noor
Needs assessment study of rare diseases education for nurses and nursing students in Poland
Dariusz Walkowiak, Jan Domaradzki
Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos, Javier Llorca
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
High content drug screening for Fanconi anemia therapeutics
Helena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, Maria Häggblad, Bo Lundgren, Miriam Aza-Carmona, Thomas Helleday, Jordi Minguillón, Jordi Surrallés
PKU dietary handbook to accompany PKU guidelines
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal
The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson’s disease
Emilie Glavind, Daniel N. Gotthardt, Jan Pfeiffenberger, Thomas Damgaard Sandahl, Teodora Bashlekova, Gro Linno Willemoe, Jane Preuss Hasselby, Karl Heinz Weiss, Holger Jon Møller, Hendrik Vilstrup, William M. Lee, Michael L. Schilsky, Peter Ott, Henning Grønbæk
Inhaled granulocyte-macrophage colony stimulating factor for mild-to-moderate autoimmune pulmonary alveolar proteinosis - a six month phase II randomized study with 24 months of follow-up
Xinlun Tian, Yanli Yang, Lulu Chen, Xin Sui, Wenshuai Xu, Xue Li, Xiaobei Guo, Lingshan Liu, Yusen Situ, Jun Wang, Yang Zhao, Shuzhen Meng, Wei Song, Yonglong Xiao, Kai-Feng Xu
Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis
Natsuko Yamakawa, Naoko Yagishita, Tomohiro Matsuo, Junji Yamauchi, Takahiko Ueno, Eisuke Inoue, Ayako Takata, Misako Nagasaka, Natsumi Araya, Daisuke Hasegawa, Ariella Coler-Reilly, Shuntaro Tsutsumi, Tomoo Sato, Abelardo Araujo, Jorge Casseb, Eduardo Gotuzzo, Steven Jacobson, Fabiola Martin, Marzia Puccioni-Sohler, Graham P. Taylor, Yoshihisa Yamano, Takeo Nakayama, Satoshi Kamei, Jun-ichi Kira, Toshiki Watanabe, Tatsuo Kohriyama, Akihiko Okayama, Atsushi Kawakami, Kenji Yuzawa, Masanori Nakagawa, Tatsufumi Nakamura, Ryuji Kubota, Eiji Matsuura, Koju Kamoi, Takashi Nakajima, Hiroyuki Murai, Kaoru Uchimaru, Yoshio Tsuboi, Yukihiro Namihira, Satoshi Ishihara, Masaaki Niino, Masahiro Nagai, Kunihiko Umekita, Norihiro Takenouchi, Toshio Matsuzaki, Youichi Hokezu, Hideki Nakamura, Takuya Matsushita, Yuji Morio, Hisashi Yonezawa, Takashi Tokashiki, Keiko Tamaki, Hirokuni Sakima, Naoko Yagishita, Tomohiro Matsuo, Junji Yamauchi, Eisuke Inoue, Ayako Takata, Natsumi Araya, Daisuke Hasegawa, Tomoo Sato, Yoshihisa Yamano
Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases
Wenshuai Xu, Zhiyan Xu, Yaping Liu, Yongzhong Zhan, Xin Sui, Ruie Feng, Min Peng, Xue Li, Jun Wang, Shuzhen Meng, Li Wang, Xinlun Tian, Xue Zhang, Kai-Feng Xu
Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity
Thamal Darshana, Dayananda Bandara, Upul Nawarathne, Udaya de Silva, Yasinta Costa, Kalavitigoda Pushpakumara, Sumithra Pathirage, Seuwandi Basnayake, Chamila Epa, Pradeepa Dilrukshi, Maheshaka Wijayawardena, Angela A. Anthony, Rexan Rodrigo, Aresha Manamperi, Frances Smith, Angela Allen, Stephan Menzel, David Rees, Anuja Premawardhena
Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry
Jeffrey A. Glassberg, Elizabeth A. Linton, Katrina Burson, Tabitha Hendershot, Joseph Telfair, Julie Kanter, Victor R. Gordeuk, Allison A. King, Cathy L. Melvin, Nirmish Shah, Jane S. Hankins, Axel Yannick Epié, Lynne D. Richardson
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis
Teresa Coelho, David Adams, Isabel Conceição, Márcia Waddington-Cruz, Hartmut H. Schmidt, Juan Buades, Josep Campistol, John L. Berk, Michael Polydefkis, Jing Jing Wang, Jihong Chen, Marianne T. Sweetser, Jared Gollob, Ole B. Suhr
Exome sequencing for diagnosis of congenital hemolytic anemia
Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros
Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang, Yun Yuan
Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa
Christine Prodinger, Anja Diem, Katherina Ude-Schoder, Josefina Piñón-Hofbauer, Sophie Kitzmueller, Johann W. Bauer, Martin Laimer
Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma
Xiao-Hong Xie, Li-Qiang Wang, Yin-Yin Qin, Xin-Qing Lin, Zhan-Hong Xie, Ming Liu, Jie-Xia Zhang, Ming Ouyang, Jun Liu, Ying-Ying Gu, Shi-Yue Li, Cheng-Zhi Zhou
Evolution of Haemophilia Care in Europe: 10 years of the principles of care
D. Noone, B. O’Mahony, F. Peyvandi, M. Makris, A. Bok
Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding
Joan D. Beckman, Quefeng Li, Samuel T. Hester, Ofri Leitner, Karen L. Smith, Raj S. Kasthuri
Neurofibromatosis I and multiple sclerosis
Christina Bergqvist, François Hemery, Salah Ferkal, Pierre Wolkenstein
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, Antoni L. Andreu, Ramon Martí, Tomàs Pinós, Noemi Baruch, Francisco J. Ortega, Miguel A. Martín, Carmen Navarro, Beatriz San-Millán, Irene Vieitez, Andrea Martinuzzi, Marinela Vavla, Claudio Bruno, Antonio Toscano, Olimpia Musumeci, Pascal Laforêt, Sabrina Sacconi, Ros Quinlivan, Renata Scalco, Andrew Wakelin, Georgios Hadjgeorgiou, Elias Zintzaras, John Vissing, Matthias Vorgerd, Enrico Zülow, Ronald Haller, Piraye Oflazer, Hacer Durmus, Jean Pouget, Alejandro Lucía, Alfredo Santalla
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature
Lele Li, Chang Su, Lijun Fan, Fenqi Gao, Xuejun Liang, Chunxiu Gong
Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches
Elena Nicod, Amanda Whittal, Michael Drummond, Karen Facey
Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study
Dedee F. Murrell, Amy S. Paller, Christine Bodemer, John Browning, Milos Nikolic, Jay A. Barth, Hjalmar Lagast, Eva Krusinska, Allen Reha
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes
Xia Wu, Hao Cai, Yu Qiu, Jian Li, Dao-bin Zhou, Xin-xin Cao
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao
Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study
Petra Kiefer, Janbernd Kirschner, Astrid Pechmann, Thorsten Langer
The infantile neuroaxonal dystrophy rating scale (INAD-RS)
Paldeep S. Atwal, Mark Midei, Darius Adams, Alexander Fay, Frederic Heerinckx, Peter Milner
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone, Maria Alice Donati
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
Marco Ritelli, Marina Venturini, Valeria Cinquina, Nicola Chiarelli, Marina Colombi
Onset features and time to diagnosis in Friedreich’s Ataxia
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch
A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
Elin Haf Davies, Jean Johnston, Camilo Toro, Cynthia J. Tifft
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Ilaria Baldelli, Alessio Baccarani, Chiara Barone, Francesca Bedeschi, Sebastiano Bianca, Olga Calabrese, Marco Castori, Nunzio Catena, Massimo Corain, Sara Costanzo, Giacomo De Paoli Barbato, Santa De Stefano, Maria Teresa Divizia, Francesco Feletti, Matteo Formica, Mario Lando, Margherita Lerone, Fulvio Lorenzetti, Carlo Martinoli, Lorenzo Mellini, Maurizio Bruno Nava, Giuseppe Porcellini, Aldamaria Puliti, Maria Victoria Romanini, Franco Rondoni, Pierluigi Santi, Silvana Sartini, Filippo Senes, Lucia Spada, Luigi Tarani, Maura Valle, Cristina Venturino, Federico Zaottini, Michele Torre, Marco Crimi
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann
Cyclin-dependent kinases and rare developmental disorders
Pierre Colas
Characterization of tracheobronchomalacia in infants with hypophosphatasia
Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer IV, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou, Howard M. Saal
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton
Distinct promoter methylation patterns of LKB1 in the hamartomatous polyps of Peutz-Jeghers syndrome and its potential in gastrointestinal malignancy prediction
Teng Li, Wensheng Lin, Yilei Zhao, Jianping Zhu, Tao Sun, Li Ren
Inhibition of the mechanistic target of rapamycin induces cell survival via MAPK in tuberous sclerosis complex
Yiyang Lu, Erik Y. Zhang, Jie Liu, Jane J. Yu
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics
Karim Gariani, Marina Nascimento, Andrea Superti-Furga, Christel Tran
Synergistic apoptosis following endoplasmic reticulum stress aggravation in mucinous colon cancer
Ashok K. Dilly, Brendon D. Honick, Yong J. Lee, David L. Bartlett, Haroon A. Choudry
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children
Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob, Christine Hofmann
Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study
Jasmin Barman-Aksözen, Michèle Nydegger, Xiaoye Schneider-Yin, Anna-Elisabeth Minder
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update
Morten Krogh Herlin, Michael Bjørn Petersen, Mats Brännström
A novel prognostic model for adult patients with Hemophagocytic Lymphohistiocytosis
Jun Zhou, Jing Zhou, Zhi-Qi Wu, Hemant Goyal, Hua-Guo Xu
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
Eugenia Rota, Marina Grandis, Alessia Di Sapio, Elisabetta Ghiglione, Pietro Fiorentino, Alessandra Repetto, Claudia Giliberto, Chiara Gemelli, Nicola Morelli, Angelo Schenone, Dario Cocito
Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey
Lisa Belter, Rosángel Cruz, Jill Jarecki
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter
European principles of inhibitor management in patients with haemophilia: implications of new treatment options
C. Hermans, P. L. F. Giangrande, B. O’Mahony, P. de Kleijn, M. Bedford, A. Batorova, J. Blatný, K. Jansone, J. Astermark, M. Crato, R. d’Oiron, A. Dougall, K. Fijnvandraat, S. Grønhaug, V. Jiménez-Yuste, M. Jokić, S. Lobet, B. Nolan, F. Peyvandi, A. Ryan
Fabry disease screening in high-risk populations in Japan: a nationwide study
Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
A Germany-wide survey study on the patient journey of patients with hereditary angioedema
Markus Magerl, Holger Gothe, Simon Krupka, Anja Lachmann, Christoph Ohlmeier
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova, Pavel Seeman
Early management of sight threatening retinopathy in incontinentia pigmenti
Sarah Michel, Clothilde Reynaud, Alejandra Daruich, Smail Hadj-Rabia, Dominique Bremond-Gignac, Christine Bodemer, Matthieu P. Robert
Impact of the therapeutic positioning report in the P&R process in Spain: analysis of orphan drugs approved by the European Commission and reimbursed in Spain from 2003 to 2019
Xavier Badia, Tania Vico, John Shepherd, Alicia Gil, José Luis Poveda-Andrés, César Hernández
Immune-mediated thrombotic thrombocytopenic purpura in patients with and without systemic lupus erythematosus: a retrospective study
Cai Yue, Jian Su, Xiaohong Fan, Li Song, Wei Jiang, Jinghua Xia, Tao Shi, Xuan Zhang, Xuemei Li
Participation in patient support forums may put rare disease patient data at risk of re-identification
James Gow, Colin Moffatt, Jamie Blackport
Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin’s family by multi-omics analysis
Xiao-dan Hao, Xiu-nian Chen, Yang-yang Zhang, Peng Chen, Chao Wei, Wei-yun Shi, Hua Gao
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
E. Brizola, G. Adami, G. I. Baroncelli, M. F. Bedeschi, P. Berardi, S. Boero, M. L. Brandi, L. Casareto, E. Castagnola, P. Fraschini, D. Gatti, S. Giannini, M. V. Gonfiantini, V. Landoni, A. Magrelli, G. Mantovani, M. B. Michelis, L. A. Nasto, L. Panzeri, E. Pianigiani, A. Scopinaro, L. Trespidi, A. Vianello, G. Zampino, L. Sangiorgi
Clinical profiles and risk factors of 7-day and 30-day mortality among 160 pediatric patients with hemophagocytic lymphohistiocytosis
Xun Li, Haipeng Yan, Xinping Zhang, Jiaotian Huang, Shi-Ting Xiang, Zhenya Yao, Ping Zang, Desheng Zhu, Zhenghui Xiao, Xiulan Lu
Correction to: PKU dietary handbook to accompany PKU guidelines
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments
Milton Pratt, Julie Uchitel, Nancy McGreal, Kelly Gordon, Lyndsey Prange, Melissa McLean, Richard J. Noel, Blaire Rikard, Mary K. Rogers Boruta, Mohamad A. Mikati
Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study
Meng Yuan, Eleni-Rosalina Andrinopoulou, Michelle E. Kruijshaar, Aglina Lika, Laurike Harlaar, Ans T. van der Ploeg, Dimitris Rizopoulos, Nadine A. M. E. van der Beek
Variability and change over time of weight and BMI among adolescents and adults with Prader-Willi syndrome: a 6-month text-based observational study
Caroline J. Vrana-Diaz, Priya Balasubramanian, Nathalie Kayadjanian, Jessica Bohonowych, Theresa V. Strong
FDA orphan products clinical trial grants: assessment of outcomes and impact on rare disease product development
Kathleen L. Miller, Christine Mueller, Gumei Liu, Katherine I. Miller Needleman, Janet Maynard
Registries for orphan drugs: generating evidence or marketing tools?
Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann, Saco J. de Visser
Bone mineral density and bone microarchitecture in a cohort of patients with Erdheim-Chester Disease
Tianhua He, Lijia Cui, Na Niu, Fengdan Wang, Huilei Miao, Hao Zhao, Xuemin Gao, Chang Liu, Fan Yu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Daobin Zhou, Jian Li, Xinxin Cao, Weibo Xia
The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1
Francesca Cervi, Veronica Saletti, Katherine Turner, Angela Peron, Sara Bulgheroni, Matilde Taddei, Francesca La Briola, Maria Paola Canevini, Aglaia Vignoli
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Correction to: Medical expenditure for patients with hemophilia in urban China: data from medical insurance information system from 2013 to 2015
Guang-wen Gong, Ying-chun Chen, Peng-qian Fang, Rui Min
Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function
Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen, Bo-Feng Zhu
Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study
Solenne Le Louet, Mohamed-Aziz Barkaoui, Jean Miron, Claire Galambrun, Nathalie Aladjidi, Pascal Chastagner, Kamila Kebaili, Corinne Armari-Alla, Anne Lambilliotte, Julien Lejeune, Despina Moshous, Valeria Della Valle, Chiara Sileo, Hubert Ducou Le Pointe, Jean-François Chateil, Sylvain Renolleau, Jean-Eudes Piloquet, Aurelie Portefaix, Ralph Epaud, Raphaël Chiron, Emmanuelle Bugnet, Gwenaël Lorillon, Abdelatif Tazi, Jean-François Emile, Jean Donadieu, Sébastien Héritier
Further evidence for POMK as candidate gene for WWS with meningoencephalocele
Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls, Christiane Kehrer
Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential
Iris Meixner, Beate Hagl, Carolin I. Kröner, Benedikt D. Spielberger, Ekaterini Paschos, Gregor Dückers, Tim Niehues, Ronny Hesse, Ellen D. Renner
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura, Madoka Mori-Yoshimura
Grisel’s syndrome in Kawasaki disease
Xiaoliang Liu, Kaiyu Zhou, Yimin Hua, Mei Wu, Lei Liu, Shuran Shao, Chuan Wang
Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients
J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout, N. A. M. E. van der Beek
Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study
Xuting Chang, Jie Zhang, Yuwu Jiang, Bufan Yao, Jingmin Wang, Ye Wu
Development of a patient-reported outcome questionnaire for aplastic anemia and paroxysmal nocturnal hemoglobinuria (PRO-AA/PNH)
Kimmo Weisshaar, Hannah Ewald, Jörg Halter, Sabine Gerull, Sandra Schönfeld, Yuliya Senft, Maria Martinez, Anne Leuppi-Taegtmeyer, Nina Khanna, Birgit Maier, Antonio Risitano, Regis Peffault de Latour, Andre Tichelli, Jakob Passweg, Beatrice Drexler
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis
Zefu Chen, Zihui Yan, Chenxi Yu, Jiaqi Liu, Yanbin Zhang, Sen Zhao, Jiachen Lin, Yuanqiang Zhang, Lianlei Wang, Mao Lin, Yingzhao Huang, Xiaoxin Li, Yuchen Niu, Shengru Wang, Zhihong Wu, Guixing Qiu, Zhihong Wu, Jianguo Zhang, Nan Wu, Lan Zhu, Shengru Wang, Na Chen, Jiaqi Liu, Sen Liu, Yuzhi Zuo, Gang Liu, Yuanqiang Zhang, Chenxi Yu, Sen Zhao, Lianlei Wang, Yanxue Zhao, Weisheng Chen, Zihui Yan, Xinzhuang Yang, Hengqiang Zhao, Yuchen Niu, Jingdan Chen, Xiaoxin Li, Huizi Wang, Zhi Zhao, Yiran Cui, Zixin Zhang, Zefu Chen, Bowen Liu, Xi Cheng, Mao Lin, Jiachen Lin, Huakang Du, Yaqi Li, Yi You, Guixing Qiu, Terry Jianguo Zhang, Nan Wu
Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study
Karamjot Sidhu, Bilal Ali, Lauren A. Burt, Steven K. Boyd, Aneal Khan
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal, Miriam Katz-Salamon
Consensus clinical management guidelines for Alström syndrome
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
Benefits of pulmonary rehabilitation in patients with advanced lymphangioleiomyomatosis (LAM) compared with COPD – a retrospective analysis
Rainer Gloeckl, Christoph Nell, Tessa Schneeberger, Inga Jarosch, Martina Boensch, Henrik Watz, Hubert Wirtz, Tobias Welte, Klaus Kenn, Andreas Rembert Koczulla
Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
Marcio M. Andrade-Campos, Laura López de Frutos, Jorge J. Cebolla, Irene Serrano-Gonzalo, Blanca Medrano-Engay, Mercedes Roca-Espiau, Beatriz Gomez-Barrera, Jorge Pérez-Heredia, David Iniguez, Pilar Giraldo
The natural course of hereditary angioedema in a Chinese cohort
Yang Cao, Shuang Liu, Yuxiang Zhi
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement
D. Thorel, S. Ingen-Housz-Oro, G. Royer, A. Delcampe, N. Bellon, C. Bodemer, A. Welfringer-Morin, D. Bremond-Gignac, M. P. Robert, M. Tauber, F. Malecaze, O. Dereure, V. Daien, A. Colin, C. Bernier, C. Couret, B. Vabres, F. Tetart, B. Milpied, T. Cornut, B. Ben Said, C. Burillon, N. Cordel, L. Beral, N. de Prost, P. Wolkenstein, M. Muraine, J. Gueudry
Medical costs of Alpha-1 antitrypsin deficiency-associated COPD in the United States
Jan Sieluk, Julia F. Slejko, Henry Silverman, Eleanor Perfetto, C. Daniel Mullins
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet, K. Michael Gibson
Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andria
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
Jannik Schaaf, Martin Sedlmayr, Johanna Schaefer, Holger Storf
Prevalence, mortality and healthcare economic burden of tuberous sclerosis in Hong Kong: a population-based retrospective cohort study (1995–2018)
William Ching-Yuen Chu, Lorraine Lok-Wing Chiang, Dorothy Chi-Ching Chan, Wilfred Hing-Sang Wong, Godfrey Chi-Fung Chan
The forgotten people with thalassemia in the time of COVID-19: South Asian perspective
Mohammad Sorowar Hossain, Enayetur Raheem, Mahbubul H. Siddiqee
Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe
Tracy Brock Lowe, Jane DeLuca, Georgianne L. Arnold
Phenotypic diversity in an international Cure VCP Disease registry
Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert, Allison Peck, Nathan Peck, Nicholas E. Johnson, Jeffrey M. Statland, Conrad C. Weihl
The Amyloidosis Forum: a public private partnership to advance drug development in AL amyloidosis
Melanie Blank, Michelle Campbell, John O. Clarke, Raymond Comenzo, Laura M. Dember, Angela Dispenzieri, Sharmila Dorbala, Preston Dunnmon, Douglas V. Faller, Rodney H. Falk, Nicole Gormley, Kristen Hsu, Carol D. Karp, Heather Landau, Jessica L. Lee, Isabelle Lousada, Michelle L. Mauermann, Mathew Maurer, Vaishali Sanchorawala, James Signorovitch, Kimberly Smith, Ashutosh D. Wechalekar, Brendan M. Weiss, Michelle K. White, Isabelle Lousada
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat
A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai, K. Tsutsui, N. Sakai, K. Eto, A. Noguchi, T. Shimizu, T. Takahashi, G. Han, K. Mishima, T. Kanbayashi, H. Kondo
Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study
Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, John J. Mitchell
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol
Clinical significance of serum anti-granulocyte–macrophage colony-stimulating factor autoantibodies in patients with sarcoidosis and hypersensitivity pneumonitis
Kanako Katayama, Masaki Hirose, Toru Arai, Kazuyoshi Hatsuda, Kazunobu Tachibana, Reiko Sugawara, Chikatoshi Sugimoto, Takahiko Kasai, Masanori Akira, Yoshikazu Inoue
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up
Yunfei Li, Xin Yuan, Ruimin Chen, Xiangquan Lin, Huakun Shangguan, Xiaohong Yang, Ying Zhang
Safety of vaccines administration in hereditary fructose intolerance
Arianna Maiorana, Antonella Sabia, Tiziana Corsetti, Carlo Dionisi-Vici
Challenging behavior in mucopolysaccharidoses types I–III and day-to-day coping strategies: a cross sectional explorative study
Frederik Hoffmann, Susanne Hoffmann, Kevin Kunzmann, Markus Ries
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
Mengyao Dai, Bing Xiao, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Hong Zhu, Lei Wang, Lili Liang, Xia Zhan, Wenjun Ji, Yu Wang, Yongguo Yu, Xuefan Gu, Lianshu Han
Health technology assessment and reimbursement policy for oncology orphan drugs in Central and Eastern Europe
Krzysztof Piotr Malinowski, Paweł Kawalec, Wojciech Trąbka, Christoph Sowada, Guenka Petrova, Manoela Manova, Alexandra Savova, Pero Draganić, Juraj Slabý, Agnes Männik, Kristóf Márky, Zinta Rugaja, Jolanta Gulbinovic, Tomas Tesar, Marian Sorin Paveliu
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis
Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Björn Pilebro, Jonas Wixner
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
Aileen Kenneson, Rani H. Singh
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley, Javier Corral
Type 1 tyrosinemia in Finland: a nationwide study
Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä, Kalle Kurppa
The urgent need to empower rare disease organizations in China: an interview-based study
Xuefeng Li, Zijuan Lu, Jianyong Zhang, Xiangyu Zhang, Shu Zhang, Jincheng Zhou, Bingzhe Li, Li Ou
Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome
Lucy Magill, Constanze Laemmer, Joachim Woelfle, Rolf Fimmers, Bettina Gohlke
Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease
Tama Dinur, Majdolen Istaiti, Dafna Frydman, Michal Becker-Cohen, Jeff Szer, Ari Zimran, Shoshana Revel-Vilk
Rosai–Dorfman disease mimicking IgG4-related diseases: a single-center experience in China
Li Wang, Wei Li, Shangzhu Zhang, Linyi Peng, Min Shen, Shuoning Song, Wei Zhang, Xinxin Cao, Ruie Feng, Wen Zhang
Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature
Zahra Beyzaei, Bita Geramizadeh, Sara Karimzadeh
Patient-reported outcomes on familial amyloid polyneuropathy (FAP)
Fabian J. Bolte, Christel Langenstroer, Frauke Friebel, Anna Hüsing-Kabar, Martin Dugas, Hartmut H. Schmidt
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
Wen Tian, Yingzhao Huang, Liying Sun, Yang Guo, Sen Zhao, Mao Lin, Xiying Dong, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Lianlei Wang, Jiachen Lin, Zihui Yan, Xinzhuang Yang, Junhui Zhao, Guixing Qiu, Jianguo Zhang, Zhihong Wu, Nan Wu
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence
Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty, Jochen Hardt
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke
European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study
Ana Requena-Méndez, Zeno Bisoffi, Joan-Lluis Vives-Corrons, Joaquim Gascon, Antoni Plasència
Small molecule drug development for rare genodermatoses – evaluation of the current status in epidermolysis bullosa
Verena Wally, Manuela Reisenberger, Sophie Kitzmüller, Martin Laimer
Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
Sarah Berrocoso, Imanol Amayra, Esther Lázaro, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Manuel Pérez, Mohammad Al-Rashaida, Alicia Aurora Rodríguez, Paula Maria Luna, Paula Pérez-Núñez, Raquel Blanco, Julián Nevado
The adult phenotype of Schaaf-Yang syndrome
Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler
Dietary iron intake and anemia: food frequency questionnaire in patients with hereditary hemorrhagic telangiectasia
Federica Cavalcoli, Alberto Gandini, Irene Aglaia Matelloni, Francesca Catalano, Saverio Alicante, Guido Manfredi, Gianfranco Brambilla, Fernanda Menozzi, Federica Perolini, Egon Costi, Roberto Bertè, Elisabetta Buscarini
English version of the self-administered Fabry Pain Questionnaire for adult patients
Ana Jovanovic, Philipp Klassen, Peter Heuschmann, Claudia Sommer, Mark Roberts, Nurcan Üçeyler
Correlation of clinical signs and symptoms of Behçet’s disease with mean platelet volume (MPV) and red cell distribution width (RDW)
Maryam Masoumi, Soraya Shadmanfar, Fereydoun Davatchi, Farhad Shahram, Massoomeh Akhlagi, Tahereh Faezi, Hoda Kavosi, Soroush Moradi, Javad Balasi
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera
Revesz syndrome revisited
Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H. Brümmendorf, Friedrich W. Cremer, Peter Bader, Matthias Dürken
Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study
Laura Muiño-Mosquera, Hans De Wilde, Daniel Devos, Danilo Babin, Luc Jordaens, Anthony Demolder, Katya De Groote, Daniel De Wolf, Julie De Backer
Apparently benign craniocervical signs in achondroplasia: “neurologic leftovers” identified through a retrospective dataset
Cory J. Smid, Janet M. Legare, Peggy Modaff, Richard M. Pauli
Novel GANAB variants associated with polycystic liver disease
Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth
The effect of the glucosylceramide synthase inhibitor lucerastat on cardiac repolarization: results from a thorough QT study in healthy subjects
Markus S. Mueller, Patricia N. Sidharta, Christine Voors-Pette, Borje Darpo, Hongqi Xue, Jasper Dingemanse
Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT
João Pedro Marques, Ana Luísa Carvalho, José Henriques, Joaquim Neto Murta, Jorge Saraiva, Rufino Silva
SARS-CoV-2 infection in a patient with propionic acidemia
Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini, Amelia Morrone
Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China
Dong Dong, Roger Yat-Nork Chung, Rufina H. W. Chan, Shiwei Gong, Richard Huan Xu
Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis
Tim T. A. Bender, Judith Leyens, Julia Sellin, Dmitrij Kravchenko, Rupert Conrad, Martin Mücke, Matthias F. Seidel
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Ana Vitoria Barban Margutti, Wilson Araújo Silva Jr., Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo Jr.
A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland
Emer Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah M. Lambert, Sally Ann Lynch
Mandibular involvement in SAPHO syndrome: a retrospective study
Mu Wang, Yueting Li, Yihan Cao, Xinyu Lu, Yuchen Liu, Jizhi Zhao, Wen Zhang, Chen Li
Chronic lymphedema in patients with kaposiform hemangioendothelioma: incidence, clinical features, risk factors and management
Yi Ji, Siyuan Chen, Chuncao Xia, Jiangyuan Zhou, Xian Jiang, Xuewen Xu, Kaiying Yang, Xuepeng Zhang, Feiteng Kong, Guoyan Lu, Yongbo Zhang
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Shuan-Pei Lin
Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate
Julie McMullan, Ashleen L. Crowe, Caitlin Bailie, Kerry Moore, Lauren S. McMullan, Nahid Shamandi, Helen McAneney, Amy Jayne McKnight
Study on clinical and biological characteristics of ameloblastic carcinoma
Zhixing Niu, Ye Li, Wantao Chen, Junfang Zhao, Hongyu Zheng, Qing Deng, Zhian Zha, Hao Zhu, Qiang Sun, Lei Su
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes
Liling Lin, Ying Zhang, Hong Pan, Jingmin Wang, Yu Qi, Yinan Ma
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo, Han-Wook Yoo
Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones
Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule, John C. Lieske
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho Jr., Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
Ha Trang, Pauline Bourgeois, Fawzia Cheliout-Heraut
Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome)
Larissa Wester, Martin Mücke, Tim Theodor Albert Bender, Julia Sellin, Frank Klawonn, Rupert Conrad, Natasza Szczypien
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte
Clinical features of a Chinese female nongestational choriocarcinoma cohort: a retrospective study of 37 patients
Yuming Shao, Yang Xiang, Fang Jiang, Boju Pan, Xirun Wan, Junjun Yang, Fengzhi Feng, Tong Ren, Jun Zhao
Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
Gut microbiome signature of Viliuisk encephalomyelitis in Yakuts includes an increase in microbes linked to lean body mass and eating behaviour
Veronika Kuznetsova, Alexander Tyakht, Lyudmila Akhmadishina, Vera Odintsova, Natalia Klimenko, Elena Kostryukova, Maria Vakhitova, Tatyana Grigoryeva, Sergey Malanin, Vsevolod Vladimirtsev, Raisa Nikitina, Viktor Volok, Vladimir Osakovskiy, Tatiana Sivtseva, Fyodor Platonov, Dmitry Alexeev, Galina Karganova
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children
Angela Galeotti, Sara De Rosa, Roberto Uomo, Carlo Dionisi-Vici, Federica Deodato, Roberta Taurisano, Giorgia Olivieri, Paola Festa
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Renata S. Scalco, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Nicol C. Voermans, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San-Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebeca Trost, Sabrina Sacconi, Mads G. Stemmerik, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Antoni L. Andreu, Ramon Martí, Tomàs Pinós, Noemi Baruch, Francisco J. Ortega, Miguel A. Martín, Carmen Navarro, Beatriz San Millán, Irene Vieitez, Andrea Martinuzzi, Monica Castelli, Federica Zucchi, Claudio Bruno, Antonio Toscano, Olimpia Musumeci, Pascal Laforêt, Sabrina Sacconi, Ros Quinlivan, Renata Scalco, Andrew Wakelin, Georgios Hadjgeorgiou, Elias Zintzaras, John Vissing, Matthias Vorgerd, Enrico Zülow, Ronald Haller, Piraye Oflazer, Hacer Durmus, Jean Pouget, Alejandro Lucia, Alfredo Santalla
Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities
G. Hazan, E. Hershkovitz, O. Staretz-Chacham
The prognostic role of plasma fibrinogen in adult secondary hemophagocytic lymphohistiocytosis
Guangli Yin, Changfeng Man, Jiayu Huang, Shengen Liao, Xin Gao, Tian Tian, Limin Duan, Ji Xu, Hongxia Qiu
The genetic landscape of crystallins in congenital cataract
Vanita Berry, Alex Ionides, Nikolas Pontikos, Michalis Georgiou, Jing Yu, Louise A. Ocaka, Anthony T. Moore, Roy A. Quinlan, Michel Michaelides
High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment
Lilian B. Olsen, Anette D. Kjeldsen, Mikael K. Poulsen, Jens Kjeldsen, Annette D. Fialla
A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li, Yongguo Yu
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan
Audiological and otologic manifestations of glutaric aciduria type I
Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, Chia-Hung Wu, Sheng-Kai Chang, Hsiu-Lien Cheng, Po-Hsiung Chang, Dau-Ming Niu, Yen-Fu Cheng
Topical ropivacaine for analgesia of aplasia cutis congenita in newborns with hereditary epidermolysis bullosa
A. Chambelland, C. Devos, F. Casagrande, C. Chiaverini
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu, Lianshu Han
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys
C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard, M. Scarpa
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Svein O. Fredwall, Unni Steen, Olga de Vries, Cecilie F. Rustad, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan, Grethe Månum
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
Soo Yeon Kim, YoungKyu Shim, Young Joon Ko, Soojin Park, Se Song Jang, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations
Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński
Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis
Tarin A. Europa, Melissa Nel, Jeannine M. Heckmann
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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease
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