Issue 1/2019
Content (300 Articles)
Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU
Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Moira French, Lisa Gaff, Cerys Gingell, Diane Green, Joanna Gribben, Anne Grimsley, Paula Hallam, Una Hendroff, Melanie Hill, Rachel Hoban, Sarah Howe, Inderdip Hunjan, Kit Kaalund, Eimear Kelleher, Farzana Khan, Steve Kitchen, Karen Lang, Sharan Lowry, Jo Males, Georgina Martin, Nicola McStravick, Avril Micciche, Camille Newby, Claire Nicol, Rachel Pereira, Louise Robertson, Kathleen Ross, Emma Simpson, Kath Singleton, Rachel Skeath, Jacqueline Stafford, Allyson Terry, Ruth Thom, Alison Tooke, Karen vanWyk, Fiona White, Lucy White, Anita MacDonald
Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG
Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos, Raymond Y. Cho
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
Wladimir Mauhin, Olivier Lidove, Olivier Benveniste
Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease
Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar, Akhmad Makhmudi
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang, Ni-Chung Lee
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender
An ontological foundation for ocular phenotypes and rare eye diseases
Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, Jane L. Ashworth, Isabelle Audo, Vilma Jurate Balciuniene, Eyal Banin, Graeme C. Black, Daniel Böhringer, Camiel J. F. Boon, Dominique Bremond-Gignac, Patrick Calvas, Guilherme Castela, Gislin Dagnelie, Hélène Dollfus, Susan M. Downes, Adriano Fasolo, Christina Fasser, Arvydas Gelzinis, Kerry Goetz, Steffen Hamann, Elise Héon, Giancarlo Iarossi, Aki Kawasaki, David Keegan, Line Kessel, Kamron Khan, Artur Klett, Sebastian Köhler, Dorothée Leroux, Bart P. Leroy, Walter Lisch, Petra Liskova, Birgit Lorenz, Riccardo Maggi, Emmanuel Maxime, Isabelle Meunier, Saddek Mohand-Said, Katarzyna Nowomiejska, Yaumara Perdomo, Axel Petzold, Markus Preising, Peter N. Robinson, Hendrik P. N. Scholl, Panagiotis I. Sergouniotis, Andrea Sodi, Katarina Stingl, Fouzia Studer, Agnese Suppiej, Rachel Thompson, Valerie Touitou, Elias Traboulsi, Jurgis Trumpaitis, Stephen J. Tuft, Veronika Vaclavik, Sandra Valeina, Caroline Van Cauwenbergh, Alain Verloes, Alain Vighetto, Russell Wheeler, Thomas Wheeler-Schilling, Patrick Yu-Wai-Man, Ditta Zobor, Eberhart Zrenner
Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disorders
Jana Pospiskova, Lukas Smolej, David Belada, Martin Simkovic, Monika Motyckova, Alice Sykorova, Pavla Stepankova, Pavel Zak
Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping
Roman Panovský, Martin Pešl, Tomáš Holeček, Jan Máchal, Věra Feitová, Lenka Mrázová, Jana Haberlová, Alžběta Slabá, Pavel Vít, Veronika Stará, Vladimír Kincl
Clinical and positron emission tomography responses to long-term high-dose interferon-α treatment among patients with Erdheim–Chester disease
Xin-xin Cao, Na Niu, Jian Sun, Hao Cai, Feng-dan Wang, Yi-ning Wang, Ming-hui Duan, Dao-bin Zhou, Jian Li
Estimating the clinical cost of drug development for orphan versus non-orphan drugs
Kavisha Jayasundara, Aidan Hollis, Murray Krahn, Muhammad Mamdani, Jeffrey S. Hoch, Paul Grootendorst
DeepNEU: cellular reprogramming comes of age – a machine learning platform with application to rare diseases research
Wayne R. Danter
Freeman-Burian syndrome
Mikaela I. Poling, Craig R. Dufresne, Robert L. Chamberlain
Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center
Aurélien Guffroy, Yannick Dieudonné, Beatrice Uring-Lambert, Joelle Goetz, Yves Alembik, Anne-Sophie Korganow
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Agnethe Berglund, Mette Hansen Viuff, Anne Skakkebæk, Simon Chang, Kirstine Stochholm, Claus Højbjerg Gravholt
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller, Janbernd Kirschner
Tracking sex-dependent differences in a mouse model of CLN6-Batten disease
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Patient involvement in medical research: what patients and physicians learn from each other
Kalen Young, Dana Kaminstein, Ana Olivos, Cristina Burroughs, Celeste Castillo-Lee, Joyce Kullman, Carol McAlear, Dianne G. Shaw, Antoine Sreih, George Casey, Pablo J. Abonia, Nita Aines, Paul Brown, April Cardone, Michael Fernandez, James Fingar, Carol Gorman, Ida Hakkarinen, Sharon Hatfield, Sean Hennessy, Paul Jacobsen, Tanaz Kermani, Marianne Vennitti, Peter A. Merkel
Cardiac and autonomic function in patients with Wilson’s disease
Silvio Quick, Ulrike Reuner, Marie Weidauer, Charlotte Hempel, Felix Martin Heidrich, Christoph Mues, Krunoslav Michael Sveric, Karim Ibrahim, Heinz Reichmann, Axel Linke, Uwe Speiser
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study
Laura L. Tosi, Marianne K. Floor, Christina M. Dollar, Austin P. Gillies, Brendan Lee, Sandesh C. S. Nagamani, Frank Rauch, Francis Glorieux, Jean-Marc Retrouvey, Paul Esposito, Eric Rush, Michael Bober, David Eyre, Danielle Gomez, Gerald Harris, Mahim Jain, Deborah Krakow, Eric Orwoll, Cathleen Raggio, Peter Smith, Tracy S. Hart, David D. Cuthbertson, V. Reid Sutton, Jeffrey P. Krischer
Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis
Melissa Nel, Sharon Prince, Jeannine M. Heckmann
Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings
Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little, Kumanan Wilson
Hemophilia carrier’s awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d’Ivoire (Ivory Coast)
Catherine Lambert, N’ Dogomo Meité, Ibrahima Sanogo, Sébastien Lobet, Eusèbe Adjambri, Stéphane Eeckhoudt, Cedric Hermans
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens
Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha, Steven J. Gray
Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D. Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod, Claire L. Shovlin, Paolo Federici, Claudia Crocione
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort
Hao Chen, Xin Li, Xiaoliang Liu, Jian Wang, Zhen Zhang, Jinjin Wu, Meirong Huang, Ying Guo, Fen Li, Xiumin Wang, Lijun Fu
Disease progression in women with X-linked adrenoleukodystrophy is slow
Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp, Marc Engelen
The patient’s view on rare disease trial design – a qualitative study
C. M. W. Gaasterland, M. C. Jansen – van der Weide, M. J. du Prie – Olthof, M. Donk, M. M. Kaatee, R. Kaczmarek, C. Lavery, K. Leeson-Beevers, N. O’Neill, O. Timmis, V. van Nederveen, E. Vroom, J. H. van der Lee
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A. Kolb
Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
Rana Yadak, Marjolein Breur, Marianna Bugiani
Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series
Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet, Leslie Amass
Primary pulmonary lymphoma in children
Xiaohui Wu, Chunju Zhou, Ling Jin, Hui Liu, Jinrong Liu, Shunying Zhao
Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders
Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro, Vivian Kessler
Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome
Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding, Hilary J. Vernon
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis
Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu, Yimin Cui
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia
Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis
Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance
Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert, Marie Christine Vantyghem
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan
Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU
A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen, A. MacDonald
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols, Maria L. Escolar
Patient access to orphan drugs in France
Marion Bourdoncle, Blandine Juillard-Condat, Florence Taboulet
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States
Therese Conner, Francesca Cook, Vivian Fernandez, Karen Rascati, Vanessa Rangel-Miller
The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011–2015
Sung-Shil Lim, Wanhyung Lee, Yeong-Kwang Kim, Jihyun Kim, Jong Heon Park, Bo Ram Park, Jin-Ha Yoon
Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study
Yue Song, Zhao Wang, Zengping Hao, Lihong Li, Junli Lu, Hongjun Kang, Yanping Lu, Yanqin You, Lijuan Li, Qingyun Chen, Bo Chen
Guidelines on the diagnosis and management of the progressive ataxias
Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt, Paola Giunti
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1
Andreas Selberherr, Oskar Koperek, Philipp Riss, Christian Scheuba, Martin B. Niederle, Reto Kaderli, Aurel Perren, Bruno Niederle
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia
Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer, Matthias Gautschi
FGF23 and its role in X-linked hypophosphatemia-related morbidity
Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro
Web-based personalised information and support for patients with a neuroendocrine tumour: randomised controlled trial
L. D. de Hosson, G. Bouma, J. Stelwagen, H. van Essen, G. H. de Bock, D. J. A. de Groot, E. G. E. de Vries, A. M. E. Walenkamp
Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings
Jessica Galli, Lorenzo Pinelli, Serena Micheletti, Giovanni Palumbo, Lucia Dora Notarangelo, Vassilios Lougaris, Laura Dotta, Elisa Fazzi, Raffaele Badolato
Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study
Marco Confalonieri, Michele Vitacca, Raffaele Scala, Mario Polverino, Eugenio Sabato, Grazia Crescimanno, Piero Ceriana, Caterina Antonaglia, Gabriele Siciliano, Nadja Ring, Serena Zacchigna, Francesco Salton, Andrea Vianello, Alessio Mattei, Fausto De Michele, Luca Triolo, Giuseppe Culla, Pieraldo Canessa, Giuseppe Girbino, Mirco Lusuardi, Enrico Perretta, Claudio De Michelis, Teresa Renda
Analysis of LPI-causing mutations on y+LAT1 function and localization
Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta
Microscopic versus endoscopic transsphenoidal surgery in the Leiden cohort treated for Cushing’s disease: surgical outcome, mortality, and complications
Leonie H. A. Broersen, Femke M. van Haalen, Nienke R. Biermasz, Daniel J. Lobatto, Marco J. T. Verstegen, Wouter R. van Furth, Olaf M. Dekkers, Alberto M. Pereira
Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate
Konrad Bork, Petra Staubach-Renz, Jochen Hardt
Betaine anhydrous in homocystinuria: results from the RoCH registry
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot
Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency
Bernadett Márkus, Nóra Veszeli, György Temesszentandrási, Henriette Farkas, László Kalabay
The Korean undiagnosed diseases program: lessons from a one-year pilot project
Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee, Young Ok Kim, Jon Soo Kim, Won Seop Kim, Young Se Kwon, June Dong Park, Younjhin Ahn, Joo-Yeon Hwang, Hyun-Young Park, Youngha Lee, Murim Choi, Jong-Hee Chae
Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study
Simon Ronicke, Martin C. Hirsch, Ewelina Türk, Katharina Larionov, Daphne Tientcheu, Annette D. Wagner
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter
Effects of immunomodulation in classic infantile Pompe patients with high antibody titers
E. Poelman, M. Hoogeveen-Westerveld, J. M. P. van den Hout, R. G. M. Bredius, A. C. Lankester, G. J. A. Driessen, S. S. M. Kamphuis, W. W. M. Pijnappel, A. T. van der Ploeg
Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis
Anthony M. Lamattina, Sergio Poli, Pranav Kidambi, Shefali Bagwe, Andrew Courtwright, Pierce H. Louis, Shikshya Shrestha, Benjamin Stump, Hilary J. Goldberg, Elizabeth A. Thiele, Ivan Rosas, Elizabeth P. Henske, Souheil El-Chemaly
Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu
“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being
Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Nadine A. Kasparian, Michelle A. Farrar
Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy
Erik Landfeldt, Hanns Lochmüller, Peter Lindgren
Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus
Justin T. Tretter, Vi-Hue Tran, Seth Gray, Hieu Ta, Rohit S. Loomba, William O’Connor, Diane E. Spicer, Andrew C. Cook, Robert H. Anderson
Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study
Carl Michael Baravelli, Sverre Sandberg, Aasne Karine Aarsand, Mette Christophersen Tollånes
Characteristics of Pompe disease in China: a report from the Pompe registry
Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei, Chuanzhu Yan
Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years
Laura Llamosas-Falcón, Eva Bermejo-Sánchez, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso-Ferreira
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F. Hoffmann, Stefan Kölker
Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet’s Aortoiliac aneurysms
Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar, Mai A. Elkalla
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang, Jian-Jun Wu
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review
Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov, Gabriel Ángel Martos-Moreno
The natural history of classic galactosemia: lessons from the GalNet registry
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations
F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri, S. Zeinali
Demography of vascular Behcet’s disease with different gender and age: an investigation with 166 Chinese patients
Yong Chen, Jian-Fei Cai, Chen-Hong Lin, Jian-Long Guan
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers
Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh, Hongbo Yang
Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome
Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman, Michael T. Collins
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report
Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra, Vicente Villanueva
Inherited ichthyoses: molecular causes of the disease in Czech patients
Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker, Sandra R. Breyer
Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool
Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer, Pierre Wolkenstein
Comparing access to orphan medicinal products in Europe
Bernarda Zamora, Francois Maignen, Phill O’Neill, Jorge Mestre-Ferrandiz, Martina Garau
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wagner, Olaf Witt, Andreas Merkenschlager, Andreas Möckel, Timo Roser, Jan-Ulrich Schlump, Antje Serfling, Juliane Spiegler, Till Milde, Andreas Ziegler, Steffen Syrbe
Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome
Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova, Anna Shcherbina
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium
Liese Vandeborne, Eline van Overbeeke, Marc Dooms, Birgit De Beleyr, Isabelle Huys
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas
The neuropsychological phenotype of Chediak-Higashi disease
Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro, Wendy J. Introne
Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients
Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith, Holly L. Peay
Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1
Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review
James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial
Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder, Julia Halbfass, Jasmin Webinger, Anja Weise, Franz Herrndobler, Mateja Nerad, Amira Shabaiek, Güler Akin-Erdinc, Verena Greim, Dorothée Böcker, Stefanie Siepe, Sabine Schneider-Fuchs, Brigitte Egenhofer-Kummert, Barbara Burkhardt, Elena Neumann, Rudolf Korinthenberg, Christian Apitz, Matthias Freund, Michael Schumacher, Verena Gravenhorst, Daniela Deppe, Joachim Eichhorn
Correction to: Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Correction to: Vascular suture line wrapping for aortoiliac anastomoses following open surgical repair of infrarenal Behçet’s aortoiliac aneurysms
Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar, Mai A. Elkalla
Screening for neuropathic pain in patients with sickle cell disease: is a single assessment scale sufficient?
Fabricio Dias Antunes, Cidson Leonardo Silva Junior, Karine Santos Cerqueira, Maira do Livramento Faro, Rosana Cipolotti
Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases
Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li, Chaodong Wang
Linear scleroderma “en coup de sabre” with extensive brain involvement—Clinicopathologic correlations and response to anti-Interleukin-6 therapy
Cynthia M. Magro, Pierre Halteh, Luke C. Olson, Ilya Kister, Lee Shapiro
Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte
Hyoung Soo Choi, Qute Choi, Jung-Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Hee Young Shin, Hyoung Jin Kang, Hoon Kook, Seon Young Kim, Soo-Jeong Kim, Inho Kim, Ji Yoon Kim, Hawk Kim, Kyung Duk Park, Kyung Bae Park, Meerim Park, Sang Kyu Park, Eun Sil Park, Jeong-A Park, Jun Eun Park, Ji Kyoung Park, Hee Jo Baek, Jeong Ho Seo, Ye Jee Shim, Hyo Seop Ahn, Keon Hee Yoo, Hoi Soo Yoon, Young-Woong Won, Kun Soo Lee, Kwang Chul Lee, Mee Jeong Lee, Sun Ah. Lee, Jun Ah Lee, Jae Min Lee, Jae Hee Lee, Ji Won Lee, Young Tak Lim, Hyun Joo Jung, Hee Won Chueh, Eun Jin Choi, Hye Lim Jung, Ju Han Kim, Dong Soon Lee
Linear IgA bullous dermatosis in adults and children: a clinical and immunopathological study of 38 patients
Giovanni Genovese, Luigia Venegoni, Daniele Fanoni, Simona Muratori, Emilio Berti, Angelo Valerio Marzano
New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis
Toshiya Nomura, Mitsuharu Ueda, Masayoshi Tasaki, Yohei Misumi, Teruaki Masuda, Yasuteru Inoue, Yukimoto Tsuda, Masamitsu Okada, Takahiro Okazaki, Kyosuke Kanenawa, Aito Isoguchi, Makoto Nakamura, Konen Obayashi, Satoru Shinriki, Hirotaka Matsui, Taro Yamashita, Yukio Ando
The role of patient organizations in the rare disease ecosystem in India: an interview based study
Mohua Chakraborty Choudhury, Gayatri Saberwal
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa
Research activity and capability in the European reference network MetabERN
Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, François-Guillaume Debray, Marie-Cécile Nassogne, Rudy van Coster, Linda De Meirleir, François Eyskens, Eva Morava, Ivo Baric, Viktor Kozich, Allan Meldgaard Lund, Dominique Germain, Nadia Belmatoug, Nathalie Guffon, Philippe Labrune, Laurent Gouya, Pascale de Lonlay, Manuel Schiff, Dries Dobbelaere, Brigitte Chabrol, Anihb Martin Das, Maurizio Scarpa, Ute Spiekerkoetter, Frank Rutsch, Ursula Ploeckinger, Klaus Mohnike, Andreas Hahn, Stefan Kölker, Kurt Ullrich, István Balogh, Bruno Bembi, Maria Alice Donati, Serena Gasperini, Giancarlo Parenti, Alessandro Salviati, Carlo-Dionisi Vici, Maja di Rocco, Graziella Cefalo, Alberto Burlina, Giovanni Ceccarini, Antonio Federico, Ans van der Ploeg, Maria-Estela Rubio-Gozalbo, Francian van Spronsen, Gepke Visser, Annet Bosch, Trine Tangeraas, Sverre Sanderberg, Beata Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Esmeralda Martins, Esmeralda-Maria Ferreira Rodrigues Silva, Luísa-Maria de Abreu Freire Diogo Matos, Olga Azevedo, Mojca-Zerjav Tansek, Maria-Luz Couce-Pico, Angeles Garcia Cazorla, Luis Aldámiz-Echevarría Azuara, Mireia del Toro-Riera, Svetlana Lajic, Niklas Darin, Patrick Deegan, Suresh Vijaym, Efstathia Chronopoulou, Simon Jones, Anupanm Chakrapani, Tarekegn Hiwot
Current challenges in the management of patients with sickle cell disease – A report of the Italian experience
Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco Sorrentino, Donatella Venturelli, Maddalena Casale, Francesca Ferrara, Laura Sainati, Maria Domenica Cappellini, Antonio Piga, Aurelio Maggio, Gian Luca Forni
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Marie Christine Arne Bes, Shahram Attarian, Anne-Catherine Aube-Nathier, Frédérique Audic, Nathalie Bach, Christine Barnerias, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Rabah Benyaou, Véronique Bombard, Françoise Bouhour, Celia Boutte, François Boyer, Claude Cances, Brigitte Chabrol, Jean-Baptiste Chanson, Françoise Chapon, Raphaële Chasseriau, Pascal Cintas, Ana-Maria Cobo, Vanessa Colombert, Marie-Carmen Cruz, Jean-Marie Cuisset, Romain Deschamps, Isabelle Desguerre, Julien Durigneux, Fanny Duval, Caroline Espil, Catherine Fafin, Léonard Feasson, Mélanie Fradin, Alain Furby, Alice Goldenberg, Sarah Grotto, Karima Ghorab, Lucie Guyant-Marechal, Delphine Heron, Arnaud Isapof, Agnes Jacquin-Piques, Hubert Journel, Pascal Laforet, Emmanuelle Lagrue, Cécile Laroche-Raynaud, Vincent Laugel, Françoise Lebeau, Armelle Magot, Véronique Manel, Michèle Mayer, Sandra Mercier, Dominique Menard, Maud Michaud, Marie-Christine Minot, Raul-Juntas Morales, Aleksandra Nadaj-Pakleza, Jean-Baptiste Noury, Laurent Pasquier, Sybille Pellieux, Yann Pereon, Julie Perrier, Sylviane Peudenier, Marguerite Preudhomme, Jean Pouget, Susana Quijano-Roy, Sylvie Ragot-Mandry, Christian Richelme, François Rivier, Pascal Sabouraud, Sabrina Sacconi, Emmanuelle Salort-Campana, Catherine Sarret, Stéphane Schaeffer, Guilhem Sole, Tanya Stojkovic, Frédéric Taithe, Hervé Testard, Vincent Tiffereau, Andoni Urtizberea, Catherine Vanhulle, Christophe Vial, Ulrike Walther-Louvier, Fabien Zagnoli, Dalil Hamroun, Guillaume Bassez
Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health
Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study
Lisa Friedlander, Ariane Berdal, Priscilla Boizeau, Brigitte Alliot Licht, Marie-Cécile Manière, Arnaud Picard, Olivier Azzis, Marie-Paule Vazquez, Corinne Alberti, Muriel De La Dure Molla
Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research
Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi, Alastair K. Denniston
“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease
Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller, Raffaella Willmann, Anna Ambrosini, Dimitrios Athanasiou, Nathalie Bere, Fabiola Bertinotti, Alexandra Breukel, Filippo Buccella, Nic Bungay, Caroline Daly, Mencía de Lemus, Maarten De Wit, Ettore Galluccio, Carsten Gamroth, Nathalie Goemans, Gábor Gömöri, Mats Hansson, François Lamy, Erik Landfeldt, Anne Lennox, Hanns Lochmüller, Hank Mansbach, Elena Mazzone, Ingeborg Meijer, Alexandre Méjat, Anneke Mels, Lucia Monaco, George Padberg, Holly Peay, Ros Quinlivan, Jes Rahbek, Marco Rasconi, Michal Rataj, Françoise Salama, Valeria Sansone, Ulrike Schara, Guus Schrijvers, Ellen Sterrenburg, Aad Tibben, Kimberly Trant, Baziel Van Engelen, Arpad Von Moers, Elizabeth Vroom, Raffaella Willmann, Annelies Zittersteijn
Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada
Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri, Devidas Menon
Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1
M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis, Sebastiaan J. M. Gaemers
Occupational therapy for epidermolysis bullosa: clinical practice guidelines
Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek, Phuong Khuu
Rendu-Osler-Weber disease: a gastroenterologist’s perspective
Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran, Antonio Gasbarrini
Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases
Chaofeng Li, Lili Liu, Yuhong Tao
Predictors of paravalvular aortic regurgitation after surgery for Behcet’s disease-related severe aortic regurgitation
Hong-Mi Choi, Hyung-Kwan Kim, Sung-Ji Park, Hyun-Jung Lee, Yeonyee E. Yoon, Jun-Bean Park, Yong-Jin Kim, Goo-Young Cho, In-Chang Hwang, Dae-Won Sohn, Jae K. Oh
Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines
K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek, K. M. Mayre-Chilton
Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder
Ming Li, Ken-ichi Hirano, Yoshihiko Ikeda, Masahiro Higashi, Chikako Hashimoto, Bo Zhang, Junji Kozawa, Koichiro Sugimura, Hideyuki Miyauchi, Akira Suzuki, Yasuhiro Hara, Atsuko Takagi, Yasuyuki Ikeda, Kazuhiro Kobayashi, Yoshiaki Futsukaichi, Nobuhiro Zaima, Satoshi Yamaguchi, Rojeet Shrestha, Hiroshi Nakamura, Katsuhiro Kawaguchi, Eiryu Sai, Shu-Ping Hui, Yusuke Nakano, Akinori Sawamura, Tohru Inaba, Yasuhiko Sakata, Yoko Yasui, Yasuyuki Nagasawa, Shintaro Kinugawa, Kazunori Shimada, Sohsuke Yamada, Hiroyuki Hao, Daisaku Nakatani, Tomomi Ide, Tetsuya Amano, Hiroaki Naito, Hironori Nagasaka, Kunihisa Kobayashi
Satellite cell content in Huntington’s disease patients in response to endurance training
Sandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, Jens A. Petersen, Maria Ligon-Auer, David Aguayo, Martin Flück, Hans H. Jung, Marco Toigo
Phenotypic variation between siblings with Metachromatic Leukodystrophy
Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann, Samuel Groeschel
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies
Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto, Toshiyuki Fukao
Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study
Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans, Panayiotis K. Yiallouros
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen
Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development
Heloisa Vieira Prado, Natália Cristina Ruy Carneiro, Matheus França Perazzo, Mauro Henrique Nogueira Guimarães de Abreu, Carolina de Castro Martins, Ana Cristina Borges-Oliveira
Treatment of Satoyoshi syndrome: a systematic review
Julián Solís-García del Pozo, Carlos de Cabo, Javier Solera
Ovarian primary primitive neuroectodermal tumor: a review of cases at PUMCH and in the published literature
Xiaopei Chao, Yalan Bi, Lei Li
Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry
Eli M. Cahan, Steven L. Frick
Treatment with metformin in twelve patients with Lafora disease
Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini
Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease
FS van Leersum, J Potjewijd, M van Geel, PM Steijlen, M Vreeburg
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner
Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy
Julio López-Bastida, Juan Manuel Ramos-Goñi, Isaac Aranda-Reneo, Domenica Taruscio, Armando Magrelli, Panos Kanavos
The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan
Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Megumi Mori, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Hidefumi Ito, Itsuro Higuchi, Akihiro Hashiguchi, Hiroyuki Nodera, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Ichizo Nishino, Masashi Aoki
Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?
Nadirah Damseh, Jennifer Stimec, Alan O’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer, Peter Kannu
Implementing reflective multicriteria decision analysis (MCDA) to assess orphan drugs value in the Catalan Health Service (CatSalut)
Laura Guarga, Xavier Badia, Mercè Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent, Caridad Pontes
The German National Action League for people with rare diseases: translating the three tiers center system into active co-operation, a one center experience
U. Plöckinger, A. Ziagaki
The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust
Beni Gómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, Alicia García Oliva, Manuel Armayones Ruiz
Rare diseases in China: analysis of 2014–2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals
Xinmiao Shi, Hui Liu, Siyan Zhan, Zhaoxia Wang, Lin Wang, Chongya Dong, Yanfang Wang, Chen Yao, Jie Ding, Yan Li
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review
Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres, Stefan A. Kolb
Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome
Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations
Giulio Calcagni, Maria Cristina Digilio, Bruno Marino, Marco Tartaglia
Genomic imbalances defining novel intellectual disability associated loci
Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences
Yi Ji, Siyuan Chen, Suhua Peng, Chunchao Xia, Li Li
Evaluation of neurofibromatosis type 1 progression using a nationwide registry of patients who submitted claims for medical expense subsidies in Japan between 2008 and 2012
Takashi Yamauchi, Machi Suka, Chikako Nishigori, Hiroyuki Yanagisawa
Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence
Wojciech Maselbas, Tomasz Litwin, Anna Czlonkowska
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan
Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER
Lucas H. P. Bernts, David E. J. Jones, Marleen M. Kaatee, Ansgar W. Lohse, Christoph Schramm, Ekkehard Sturm, Joost P. H. Drenth
Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker
Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper, Pablo Garcia-Pavia
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review
Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang, Xiaoping Chen
Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia
Dalibor Stanimirovic, Eva Murko, Tadej Battelino, Urh Groselj
Quantitative analysis of a rare disease network’s international contact database and E-repository provides insights into biobanking in the electronic consent era
Alexander Suarez, Curran Reilly, David C. Fajgenbaum
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations
Sandra Courbier, Rebecca Dimond, Virginie Bros-Facer
RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework
Matthew I. Bellgard, Tom Snelling, James M. McGree
Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes
Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse, Corinne Vigouroux
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer, Jane Ashworth, Daniel Hindley, Gemma Arca Diaz, Myfanwy Rawson, Peter Turnpenny
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder, F. Rutsch
Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement
Siyu Ma, Changming Chen, Qian Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Yan Liu, Qiulan Ding
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients
Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, Marcela Del Rio
RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant
Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli
A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom
Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett, Richard Thompson
Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases
V. Vanhoorne, E. Peeters, I. Van Tongelen, K. Boussery, E. Wynendaele, B. De Spiegeleer, J. P. Remon, C. Vervaet
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa
Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan, Stephen H. Tsang
Sleep disturbances in Wolfram syndrome
Amy Licis, Gabriel Davis, Sarah A. Eisenstein, Heather M. Lugar, Tamara Hershey
Angiogenesis induction in Buerger's disease: a disease management double-edged sword?
Bahare Fazeli, Shayan Keramat, Ladan Assadi, Hossein Taheri
Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome
Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen, Guohong Tian
Health-related quality of life and its risk factors in Chinese hereditary angioedema patients
Shuang Liu, Xue Wang, Yingyang Xu, Qun Xu, Yuxiang Zhi
Enhanced migration and adhesion of peripheral blood neutrophils from SAPHO patients revealed by RNA-Seq
Yuxiu Sun, Chen Li, Mengmeng Zhu, Shen Zhang, Yihan Cao, Qiao Yang, Pengfei Zhao, Guangrui Huang, Anlong Xu
An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders
Ludwig Kraus, Olympia Kremmyda, Tatiana Bremova-Ertl, Sebastià Barceló, Katharina Feil, Michael Strupp
Quality of life of children with achondroplasia and their parents - a German cross-sectional study
Stefanie Witt, Beate Kolb, Janika Bloemeke, Klaus Mohnike, Monika Bullinger, Julia Quitmann
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
M. Fernanda Rozas, Felipe Benavides, Luis León, Gabriela M. Repetto
Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry
Antoni Riera-Mestre, José María Mora-Luján, Javier Trujillo-Santos, Jorge Del Toro, José Antonio Nieto, José María Pedrajas, Raquel López-Reyes, Silvia Soler, Aitor Ballaz, Pau Cerdà, Manel Monreal, Manuel Monreal, Paolo Prandoni, Benjamin Brenner, Dominique Farge-Bancel, Raquel Barba, Pierpaolo Di Micco, Laurent Bertoletti, Sebastian Schellong, Inna Tzoran, Abilio Reis, Marijan Bosevski, Henri Bounameaux, Radovan Malý, Peter Verhamme, Joseph A. Caprini, Hanh My Bui, M. D. Adarraga, M. Agud, M. A. Aibar, M. Alcalde-Manero, J. Alfonso, C. Amado, J. I. Arcelus, A. Ballaz, R. Barba, C. Barbagelata, M. Barrón, B. Barrón-Andrés, A. Blanco-Molina, A. M. Camon, I. Cañas, J. Castro, P. Cerdà, J. de Miguel, J. del Toro, P. Demelo, C. Díaz-Pedroche, J. A. Díaz-Peromingo, I. M. Domínguez, J. C. Escribano, C. Falgá, C. Fernández-Capitán, M. C. Fernández-Criado, M. A. Fidalgo, K. Flores, C. Font, L. Font, I. Furest, M. A. García, F. García-Bragado, A. García-Raso, O. Gavín-Blanco, O. Gavín-Sebastián, A. Gil-Díaz, D. Godoy-Díaz, V. Gómez, C. Gómez-Cuervo, J. González-Martínez, E. Grau, L. Guirado, J. Gutiérrez, L. M. Hernández-Blasco, L. Jara-Palomares, M. J. Jaras, D. Jiménez, M. D. Joya, I. Jou, A. Lalueza, R. Lecumberri, J. Lima, P. Llamas, J. L. Lobo, L. López-Jiménez, M. López-Meseguer, P. López-Miguel, J. J. López-Núñez, R. López-Reyes, J. B. López-Sáez, M. A. Lorente, M. Loring, M. Lumbierres, O. Madridano, A. Maestre, P. J. Marchena, F. Martín-Martos, C. Martínez-Baquerizo, M. A. Martínez-García, M. Mellado, J. Moisés, M. Monreal, M. V. Morales, A. Muñoz-Blanco, J. A. Nieto, M. J. Núñez, M. C. Olivares, P. E. Olivera, C. Ortega, J. Osorio, S. Otalora, R. Otero, M. Panadero-Macia, V. Parra, J. M. Pedrajas, G. Pellejero, C. Pérez-Ductor, G. Pérez-Rus, M. L. Peris, D. Pesantez, J. A. Porras, A. Riera-Mestre, A. Rivas, A. Rodríguez-Cobo, C. Rodríguez-Matute, V. Rosa, C. M. Rubio, P. Ruiz-Artacho, P. Ruiz-Sada, J. C. Sahuquillo, M. C. Sala-Sainz, G. Salgueiro, A. Sampériz, R. Sánchez-Martínez, J. F. Sánchez-Muñoz-Torrero, E. Seguí, S. Soler, S. Suárez, J. M. Suriñach, C. Tolosa, M. I. Torres, J. Trujillo-Santos, F. Uresandi, B. Valero, R. Valle, G. Vidal, C. Vilar, P. Villares, P. Gutiérrez, F. J. Vázquez, A. Vilaseca, T. Vanassche, C. Vandenbriele, P. Verhamme, J. Hirmerova, R. Malý, E. Salgado, I. Benzidia, L. Bertoletti, A. Bura-Riviere, P. Debourdeau, M. C. Courtois, D. Farge-Bancel, H. Helfer, A. Hij, I. Mahé, F. Moustafa, S. Schellong, A. Braester, B. Brenner, I. Tzoran, F. Bilora, C. Bortoluzzi, M. Ciammaichella, F. Dentali, P. Di Micco, P. Ferrazzi, E. Imbalzano, C. Lodigiani, R. Maida, D. Mastroiacovo, N. Mumoli, F. Pace, R. Pesavento, F. Pomero, P. Prandoni, R. Quintavalla, A. Rocci, L. Rota, C. Siniscalchi, E. Tiraferri, A. Tufano, A. Visonà, N. Vo Hong, B. Zalunardo, R. V. Kalejs, D. Kigitovica, A. Skride, M. Bosevski, M. Zdraveska, H. Bounameaux, L. Mazzolai, J. A. Caprini, A. J. Tafur, H. M. Bui
Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy
Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters, Albena Jordanova
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jordi Díaz-Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
Correction to: An ontological foundation for ocular phenotypes and rare eye diseases
Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus
Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview
Eric T. Rush, Scott Moseley, Anna Petryk
Recent advances in idiopathic bilateral vestibulopathy: a literature review
Chisato Fujimoto, Masato Yagi, Toshihisa Murofushi
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere
Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance
Rui Min, Xiaoyan Zhang, Pengqian Fang, Biyan Wang, He Wang
Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy
Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong, Dmitry Khodyakov
Long-term efficacy and safety of sirolimus therapy in patients with lymphangioleiomyomatosis
Siqi Hu, Xiuxiu Wu, Wenshuai Xu, Xinlun Tian, Yanli Yang, Shao-Ting Wang, Song Liu, Xingxiang Xu, Kai-Feng Xu
Segmental schwannomatosis: characteristics in 12 patients
Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein, Juliette Mazereeuw-Hautier
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer, Arndt Rolfs
Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia
C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure, P. M. Torring, S. Dupuis-Girod, E. Buscarini
Haemophilia A: health and economic burden of a rare disease in Portugal
Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos, Catarina Silva
Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease
Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes, Elin Haf Davies
The cardiovascular phenotype of adult patients with phenylketonuria
Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger, Uwe Querfeld
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis
Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Toshiyuki Fukao
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial
Aram Yang, Jin-Ho Choi, Young Bae Sohn, Yunae Eom, Jiyoon Lee, Han-Wook Yoo, Dong-Kyu Jin
Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom, Gert J. Geurtsen
Ocular manifestations in Gorlin-Goltz syndrome
Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini, Alessandro Lambiase
Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort
Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau, Oliver Semler
Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis
Mark P. Connolly, Saswat Panda, Julien Patris, Bouke P. C. Hazenberg
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients
Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing
Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay, Laurence Le Moyec
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants
Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu, Xue Zhang
Update on the management of colchicine resistant Familial Mediterranean Fever (FMF)
Georges El Hasbani, Ali Jawad, Imad Uthman
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force
Noel T Southall, Madhusudan Natarajan, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Benoît Deprez, Tim Guilliams, Lawrence Hunter, Carin MA Rademaker, Virginie Hivert, Diego Ardigò, David Cavalla, Christine Colvis, Benoît Deprez, Kristina Hettne, Tim Guilliams, Virginie Hivert, Peter-Bram ‘t-Hoen, Lawrence Hunter, Caroline Kant, Jeffrey Krischer, Frédéric Marin, Madhusudan Natarajan, Jordi Quintana, Carin MA Rademaker, Jane Reed, Noel Southall, Stylianos Tsigkos, Rick Thompson, Annemieke Aartsma-Rus
Cognitive functioning in patients with classical galactosemia: a systematic review
Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen
Real-world clinical course of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in Japan
Shuntaro Tsutsumi, Tomoo Sato, Naoko Yagishita, Junji Yamauchi, Natsumi Araya, Daisuke Hasegawa, Misako Nagasaka, Ariella L. G. Coler-Reilly, Eisuke Inoue, Ayako Takata, Yoshihisa Yamano
Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis
Caroline Hastings, Camilo Vieira, Benny Liu, Cyrus Bascon, Claire Gao, Raymond Y. Wang, Alicia Casey, Sharon Hrynkow
Management and outcomes of pneumothorax in adult patients with Langerhans cell Histiocytosis
Pierre Le Guen, Sylvie Chevret, Emmanuelle Bugnet, Constance de Margerie-Mellon, Gwenaël Lorillon, Agathe Seguin-Givelet, Fanélie Jouenne, Dominique Gossot, Robert Vassallo, Abdellatif Tazi
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana, Jordi Pérez-López
Unsuccessful intravenous D-mannose treatment in PMM2-CDG
Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome
Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis
Analysis of economic burden and its associated factors of twenty-three rare diseases in Shanghai
Xiaoshu Cai, Hui Yang, Georgi Z. Genchev, Hui Lu, Guangjun Yu
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study
Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang, Chuanzhu Yan, Yun Yuan
Growth characteristics and therapeutic decision markers in von Hippel-Lindau disease patients with renal cell carcinoma
Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz, Stefan Zschiedrich
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch, Manuel Schiff
Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations
Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai, Long Li
Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center
Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud, Maithé Tauber
An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study
Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag, Lynne M. Bird
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani, Nicole I. Wolf
The work, goals, challenges, achievements, and recommendations of orphan medicinal product organizations in India: an interview-based study
Mohua Chakraborty Choudhury, Gayatri Saberwal
Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review
Li Ma, Yu Xia, Linlin Wang, Ruifeng Liu, Xuepei Huang, Tiantian Ye, Li Zhang, Qingli Zhu, Jianchu Li, Yuxin Jiang
Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study
Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers III, Alan L. Shields
Left ventricular clefts – incidental finding or pathologic sign of Wilson’s disease?
Kun Zhang, Ulrike Reuner, Marie Weidauer, Uwe Speiser, Karim Ibrahim, Marian Christoph, Frank R. Heinzel, Burkert Pieske, Felix M. Heidrich, Silvio Quick
Untypical autoimmune pancreatitis and pancreatic cancer: differential diagnosis experiences extracted from misdiagnose of two cases
Gaopeng Li, Ting Liu, Jian Zheng, Wenqin Kang, Jun Xu, Zefeng Gao, Jinfeng Ma
The effect of impulsivity and inhibitory control deficits in the saccadic behavior of premanifest Huntington’s disease individuals
Filipa Júlio, Gina Caetano, Cristina Januário, Miguel Castelo-Branco
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy
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Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner, Martina Huemer
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg, Margreet A. E. M. Wagenmakers
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex
Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy
Shan He, Zhuang Tian, Hongzhi Guan, Jian Li, Quan Fang, Shuyang Zhang
mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?
Hao Cui, Lei Song, Changsheng Zhu, Ce Zhang, Bing Tang, Shengwei Wang, Guixin Wu, Yubao Zou, Xiaohong Huang, Rutai Hui, Shuiyun Wang, Jizheng Wang
Obesity in achondroplasia patients: from evidence to medical monitoring
Celine Saint-Laurent, Laura Garde-Etayo, Elvire Gouze
Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey
Alexandra Morrison, Esmee Oussoren, Tabea Friedel, Jordi Cruz, Nalan Yilmaz
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong, Ruimin Chen
Systemic bevacizumab for high-output cardiac failure in hereditary hemorrhagic telangiectasia: an international survey of HHT centers
Hanny Al-Samkari, Hasan A. Albitar, Scott E. Olitsky, Marianne S. Clancy, Vivek N. Iyer
A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades
Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann, Susanne Pitz
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review
Hannah Fraser, Julia Geppert, Rebecca Johnson, Samantha Johnson, Martin Connock, Aileen Clarke, Sian Taylor-Phillips, Chris Stinton
Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations
C. Salas-Labadía, S. Gómez-Carmona, R. Cruz-Alcívar, D. Martínez-Anaya, V. Del Castillo-Ruiz, C. Durán-McKinster, V. Ulloa-Avilés, E. Yokoyama-Rebollar, A. Ruiz-Herrera, P. Navarrete-Meneses, E. Lieberman-Hernández, A. González-Del Angel, D. Cervantes-Barragán, C. Villarroel-Cortés, A. Reyes-León, D. Suárez-Pérez, A. Pedraza-Meléndez, A. González-Orsuna, P. Pérez-Vera
Incidence of acquired thrombotic thrombocytopenic purpura in Germany: a hospital level study
Wolfgang Miesbach, Jan Menne, Martin Bommer, Ulf Schönermarck, Thorsten Feldkamp, Martin Nitschke, Timm H. Westhoff, Felix S. Seibert, Rainer Woitas, Rui Sousa, Michael Wolf, Stefan Walzer, Björn Schwander
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio, Daniela Melis
Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature
Jimmy Debladis, Marion Valette, Kuzma Strenilkov, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone, Maïthé Tauber
Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset
Raffaello Ditaranto, Giuseppe Boriani, Mauro Biffi, Massimiliano Lorenzini, Maddalena Graziosi, Matteo Ziacchi, Ferdinando Pasquale, Giovanni Vitale, Alessandra Berardini, Rita Rinaldi, Giovanna Lattanzi, Luciano Potena, Sofia Martin Suarez, Maria Letizia Bacchi Reggiani, Claudio Rapezzi, Elena Biagini
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture
Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang, Jian Wang
Biliary tract large cell neuroendocrine carcinoma: current evidence
Riva Raiker, Aman Chauhan, Hassan Hasanein, Grant Burkeen, Millicent Horn, Janeesh Veedu, Cory Vela, Susanne Arnold, Jill Kolesar, Lowell Anthony, B. Mark Evers, Michael Cavnar
Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins
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Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno, Raúl Estévez
Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey
Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi, Rosagemma Ciliberti
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease
Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini
Incontinentia pigmenti burden scale: designing a family burden questionnaire
Charles Taieb, Smail Hadj-Rabia, Jacques Monnet, Mohammed Bennani, Christine Bodemer
New insights on congenital pulmonary airways malformations revealed by proteomic analyses
C. Barazzone-Argiroffo, J. Lascano Maillard, I. Vidal, M. L. Bochaton-Piallat, S. Blaskovic, Y. Donati, B. E. Wildhaber, A.-L. Rougemont, C. Delacourt, I. Ruchonnet-Métrailler
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Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Poor prognostic factors in patients with newly diagnosed intestinal Adamantiades-Behçet’s disease in the Shanghai Adamantiades-Behçet’s disease database: a prospective cohort study
Liang Zhang, Yun Tian, Jing-Fen Ye, Chen-Hong Lin, Jian-Long Guan
Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review
Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka, Marek Ruchała
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region
Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade, Ivonne Jericó
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Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
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Andrea Diociaiuti, Holger Steinke, Alexander Nyström, Agnes Schwieger-Briel, Frank Meiss, Christina Pfannenberg, Leena Bruckner-Tuderman, Juri Ruf, Rita De Vito, May El Hachem, Dimitra Kiritsi
Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey, Marie Legendre, Aurélie Plessier, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Cottin, Nadia Nathan, Bruno Crestani
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
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Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu
Cutis marmorata telangiectatica congenita: a literature review
Teresa Nu Phuong Trinh Bui, Ayse Corap, Anette Bygum
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire
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Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Cutaneous neurofibromas: patients’ medical burden, current management and therapeutic expectations: results from an online European patient community survey
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An analysis of orphan medicine expenditure in Europe: is it sustainable?
Jorge Mestre-Ferrandiz, Christina Palaska, Tom Kelly, Adam Hutchings, Adam Parnaby
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Rare diseases in Chile: challenges and recommendations in universal health coverage context
Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein, Gabriela M. Repetto
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Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi, Jian-Kang Li, Yong-Jin Zhang, Fang Chen, Qing Chang, Fang Song, Si-Mai Shen, Ge-Zhi Xu, Ji-Hong Wu
Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study
Quynh C. Nguyen, Olivier Duverger, Rashmi Mishra, Gabriela Lopez Mitnik, Priyam Jani, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report
Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Zhi-Jun Zhu, Hai-Bo Wang, Li-Ying Sun
Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison study
Jingshuang Yu, Tong Yang, Jiewen Dai, Xudong Wang
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans
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Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Retinal hyperreflective foci in Fabry disease
Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol, Simon Dulz
Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature
Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia, Dong Wu
Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group
Eleonora Gaetani, Fabiana Agostini, Angelo Porfidia, Igor Giarretta, Daniela Feliciani, Luigi Di Martino, Annalisa Tortora, Antonio Gasbarrini, Roberto Pola, Giulio Passali, MariaElena Riccioni, Alfredo Puca, Carmelo Sturiale, Laura Riccardi, Carmine Di Stasi, Andrea Contegiacomo, Anna Emilia Del Ciello, Manuel Ferraro, Anna Franca Cavaliere, Emanuela Lucci Cordisco, Giuseppe Zampino, Valentina Giorgio, Veronica Ojetti, Giuseppe Marrone, Gabriele Spoletini, Gabriella Locorotondo, Gaetano Lanza, Erica De Candia, Elisabetta Peppucci, Luigi Corina, Maria Teresa Lombardi
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children
Lijun Fan, Xiaoya Ren, Yanning Song, Chang Su, Junfen Fu, Chunxiu Gong
The evolving therapeutic landscape of genetic skeletal disorders
Ataf Hussain Sabir, Trevor Cole