Issue 1/2014
Content (214 Articles)
Prevalence of inherited ichthyosis in France: a study using capture-recapture method
Isabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, Sophie Henner, Christine Chiavérini, Aude Maza, Sandrine Pascal, Lauriane Rodriguez, Pierre Vabres, Ludovic Martin, Stéphanie Mallet, Sébastien Barbarot, Jérôme Dupuis, Juliette Mazereeuw-Hautier
ZEB2, a new candidate gene for asplenia
Linda Pons, Sophie Dupuis-Girod, Marie-Pierre Cordier, Patrick Edery, Massimiliano Rossi
Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study
Ilan Ben-Zvi, Tami Krichely-Vachdi, Olga Feld, Merav Lidar, Shaye Kivity, Avi Livneh
VPAC2 receptor agonist BAY 55-9837 increases SMN protein levels and moderates disease phenotype in severe spinal muscular atrophy mouse models
Jeremiah Hadwen, Duncan MacKenzie, Fahad Shamim, Kevin Mongeon, Martin Holcik, Alex MacKenzie, Faraz Farooq
Single amino acid supplementation in aminoacidopathies: a systematic review
Danique van Vliet, Terry GJ Derks, Margreet van Rijn, Martijn J de Groot, Anita MacDonald, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study
Werner Klingler, Sebastian Heiderich, Thierry Girard, Elvira Gravino, James JA Heffron, Stephan Johannsen, Karin Jurkat-Rott, Henrik Rüffert, Frank Schuster, Marc Snoeck, Vincenzo Sorrentino, Vincenzo Tegazzin, Frank Lehmann-Horn
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics
Clarissa Troller Habekost, Pedro Schestatsky, Vitor Felix Torres, Daniella Moura de Coelho, Carmen Regla Vargas, Vitor Torrez, Jean Pierre Oses, Luis Valmor Portela, Fernanda dos Santos Pereira, Ursula Matte, Laura Bannach Jardim
Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study
Scarlet Vatlach, Christoph Maas, Christian F Poets
Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial
Luciana Chessa, Vincenzo Leuzzi, Alessandro Plebani, Annarosa Soresina, Roberto Micheli, Daniela D’Agnano, Tullia Venturi, Anna Molinaro, Elisa Fazzi, Mirella Marini, Pierino Ferremi Leali, Isabella Quinti, Filomena Monica Cavaliere, Gabriella Girelli, Maria Cristina Pietrogrande, Andrea Finocchi, Stefano Tabolli, Damiano Abeni, Mauro Magnani
Use of biomarkers in the context of orphan medicines designation in the European Union
Stelios Tsigkos, Jordi Llinares, Segundo Mariz, Stiina Aarum, Laura Fregonese, Bozenna Dembowska-Baginska, Rembert Elbers, Pauline Evers, Tatiana Foltanova, Andre Lhoir, Ana Corrêa-Nunes, Daniel O’Connor, Albertha Voordouw, Kerstin Westermark, Bruno Sepodes
Evidence-based practice in Behçet’s disease: identifying areas of unmet need for 2014
Robert J Barry, Bharat Markandey, Rahul Malhotra, Henry Knott, Nikita Joji, Mohammed Mubin, Alastair K Denniston, Phillip I Murray
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
Ghada Abdel-Salam, Michaela Thoenes, Hanan H Afifi, Friederike Körber, Daniel Swan, Hanno Jörn Bolz
Glycogenosome accumulation in the arrector pili muscle in Pompe disease
Istvan Katona, Joachim Weis, Frank Hanisch
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
Christiane Kehrer, Samuel Groeschel, Birgit Kustermann-Kuhn, Friederike Bürger, Wolfgang Köhler, Alfried Kohlschütter, Annette Bley, Robert Steinfeld, Volkmar Gieselmann, Ingeborg Krägeloh-Mann
Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry
Laurent Bonesso, Monique Piraud, Céline Caruba, Emmanuel Van Obberghen, Raymond Mengual, Charlotte Hinault
Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives
David Uguen, Thomas Lönngren, Yann Le Cam, Sarah Garner, Emmanuelle Voisin, Carlo Incerti, Marc Dunoyer, Moncef Slaoui
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Pao Chin Chiu, Yu-Yuan Ke, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Ju-Li Lin, Shuan-Pei Lin
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Veerle RC Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin, Abhijit Dixit, Joel Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas Jacques, Mary D King, Periklis Makrythanasis, Adrienn Máté, James AR Nicoll, Declan O’Rourke, Sue Price, Andrew N Williams, Louise Wilson, Mohnish Suri, Laszlo Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles BLM Majoie, Henk A Marquering, Bwee Tien Poll-Thé, Frank Baas
Estimating the budget impact of orphan drugs in Sweden and France 2013–2020
Adam Hutchings, Carina Schey, Richard Dutton, Felix Achana, Karolina Antonov
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation
Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck-Wödl, Sander B Nabuurs, André BP van Kuilenburg, Arjan PM de Brouwer, Ludger Schöls
Assessing the role of multiple pregnancies in the association between tetralogy of Fallot and assisted reproductive techniques: a path-analysis approach
Karim Tararbit, Nathalie Lelong, Lucile Houyel, Damien Bonnet, François Goffinet, Babak Khoshnood
China launched a pilot project to improve its rare disease healthcare levels
Yazhou Cui, Xiaoyan Zhou, Jinxiang Han
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Hannah Verdin, Elena A Sorokina, Françoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere
Idiopathic eosinophilic pneumonia in children: the French experience
Lisa Giovannini-Chami, Alice Hadchouel, Nadia Nathan, Francois Brémont, Jean-Christophe Dubus, Michael Fayon, Véronique Houdouin, Michèle Berlioz-Baudoin, Virginie Feret, Thierry Leblanc, Karine Morelle, Marc Albertini, Annick Clement, Jacques de Blic
Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study
Juan Buades Reinés, Tomás Ripoll Vera, Mercedes Uson Martín, Hernán Andréu Serra, Ma Margarita Company Campins, José Miguel Diéguez Millán, Cristina Gallego Lezaun, Manuel Raya Cruz
The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community
Ségolène Aymé, Charlotte Rodwell
Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey
Christian J Hendriksz, Christine Lavery, Mahmut Coker, Sema Kalkan Ucar, Mohit Jain, Lisa Bell, Christina Lampe
Targeting epidermal lipids for treatment of Mendelian disorders of cornification
Dimitra Kiritsi, Franziska Schauer, Ute Wölfle, Manthoula Valari, Leena Bruckner-Tuderman, Cristina Has, Rudolf Happle
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies
Petra Lassuthova, Dana Šišková, Jana Haberlová, Iva Sakmaryová, Aleš Filouš, Pavel Seeman
The influence of trigger factors on hereditary angioedema due to C1-inhibitor deficiency
Zsuzsanna Zotter, Dorottya Csuka, Erika Szabó, Ibolya Czaller, Zsuzsanna Nébenführer, György Temesszentandrási, George Fust, Lilian Varga, Henriette Farkas
Concerns about unapproved meningococcal vaccination for eculizumab therapy in Japan
Tetsuya Tanimoto, Eiji Kusumi, Kazutaka Hosoda, Kaduki Kouno, Tamae Hamaki, Masahiro Kami
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Anju K Philips, Auli Sirén, Kristiina Avela, Mirja Somer, Maarit Peippo, Minna Ahvenainen, Fatma Doagu, Maria Arvio, Helena Kääriäinen, Hilde Van Esch, Guy Froyen, Stefan A Haas, Hao Hu, Vera M Kalscheuer, Irma Järvelä
Sweet taste loss in myasthenia gravis: more than a coincidence?
Joelle N Chabwine, Muriel V Tschirren, Anastasia Zekeridou, Basile N Landis, Thierry Kuntzer
A multicenter study on Leigh syndrome: disease course and predictors of survival
Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A Bindoff, Már Tulinius, Niklas Darin
The health and economic burden of haemophilia in Belgium: a rare, expensive and challenging disease
Séverine Henrard, Brecht Devleesschauwer, Philippe Beutels, Michael Callens, Frank De Smet, Cedric Hermans, Niko Speybroeck
Clinical phenotypes of MAGEL2 mutations and deletions
Karin Buiting, Nataliya Di Donato, Jasmin Beygo, Susanne Bens, Maja von der Hagen, Karl Hackmann, Bernhard Horsthemke
Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study
Giusy Ranucci, Fabiola Di Dato, Maria Immacolata Spagnuolo, Pietro Vajro, Raffaele Iorio
Ethnicity and association with disease manifestations and mortality in Behçet’s disease
Lea Savey, Mathieu Resche-Rigon, Bertrand Wechsler, Cloé Comarmond, Jean Charles Piette, Patrice Cacoub, David Saadoun
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes
Marissa Orenstein, Deborah Barbouth, Olaf A Bodamer, Neal J Weinreb
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia
Neil J Hime, Dominic Fitzgerald, Paul Robinson, Hiran Selvadurai, Peter Van Asperen, Adam Jaffé, Yvonne Zurynski
A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry
Monica Mazzucato, Laura Visonà Dalla Pozza, Silvia Manea, Cinzia Minichiello, Paola Facchin
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
Barbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, Camiel Verhamme, Frank Baas, Marianne de Visser
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease
Laura van Dussen, Marieke Biegstraaten, Carla EM Hollak, Marcel GW Dijkgraaf
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
Matthis Synofzik, Rebecca Schüle, Martin Schulze, Janina Gburek-Augustat, Roland Schweizer, Anja Schirmacher, Ingeborg Krägeloh-Mann, Michael Gonzalez, Peter Young, Stephan Züchner, Ludger Schöls, Peter Bauer
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Joe C H Sim, Susan M White, Elizabeth Fitzpatrick, Gabrielle R Wilson, Greta Gillies, Kate Pope, Hayley S Mountford, Pernille M Torring, Shane McKee, Anneke T Vulto-van Silfhout, Shalini N Jhangiani, Donna M Muzny, Richard J Leventer, Martin B Delatycki, David J Amor, Paul J Lockhart
A nationwide survey on Marinesco-Sjögren syndrome in Japan
Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, Yukiko K Hayashi
Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study
Oscar J Pozo, Josep Marcos, Andreu Fabregat, Rosa Ventura, Gregori Casals, Paula Aguilera, Jordi Segura, Jordi To-Figueras
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness
Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, Jean-Pierre Hardelin, Cataldo Schietroma, Yahia Rous, Malek Louha, Ahmed Cheknane, Hayet Lebdi, Kamel Boudjelida, Mohamed Makrelouf, Akila Zenati, Christine Petit
THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease
Jonas Wixner, Rajiv Mundayat, Onur N Karayal, Intissar Anan, Pontus Karling, Ole B Suhr
The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations
Amanda G Silva, Ana CV Krepischi, Peter L Pearson, Pierre Hainaut, Carla Rosenberg, Maria Isabel Achatz
Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O
Katarzyna Kwiatkowska, Ewelina Marszałek–Sadowska, Gabriela Traczyk, Piotr Koprowski, Małgorzata Musielak, Agnieszka Ługowska, Magdalena Kulma, Anna Grzelczyk, Andrzej Sobota
Secreted mucins in pseudomyxoma peritonei: pathophysiological significance and potential therapeutic prospects
Afshin Amini, Samar Masoumi-Moghaddam, Anahid Ehteda, David Lawson Morris
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
Mohammad J Hosen, Paul J Coucke, Olivier Le Saux, Anne De Paepe, Olivier M Vanakker
First evidence of subclinical renal tubular injury during sickle-cell crisis
Vincent Audard, Stéphane Moutereau, Gaetana Vandemelebrouck, Anoosha Habibi, Mehdi Khellaf, Philippe Grimbert, Yves Levy, Sylvain Loric, Bertrand Renaud, Philippe Lang, Bertrand Godeau, Frédéric Galactéros, Pablo Bartolucci
LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains
Jun-ichi Satoh, Nobutaka Motohashi, Yoshihiro Kino, Tsuyoshi Ishida, Saburo Yagishita, Kenji Jinnai, Nobutaka Arai, Kiyotaka Nakamagoe, Akira Tamaoka, Yuko Saito, Kunimasa Arima
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology
Guillaume Velasco, Emma L Walton, Delphine Sterlin, Sabrine Hédouin, Hirohisa Nitta, Yuya Ito, Fanny Fouyssac, André Mégarbané, Hiroyuki Sasaki, Capucine Picard, Claire Francastel
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tülay Güran, Behzat Özkan, Zeynep Atay, Teoman Akçay, Belma Haliloglu, Koray Boduroglu, Yasemin Alanay, Serap Turan
Shining a light in the black box of orphan drug pricing
Eline Picavet, Thomas Morel, David Cassiman, Steven Simoens
Natural course of pontocerebellar hypoplasia type 2A
Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin, Ingeborg Krägeloh-Mann
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
Ennio Del Giudice, Marina Macca, Floriana Imperati, Alessandra D’Amico, Philippe Parent, Laurent Pasquier, Valerie Layet, Stanislas Lyonnet, Veronique Stamboul-Darmency, Christel Thauvin-Robinet, Brunella Franco
Liver transplantation in glycogen storage disease type I
Susanna JB Boers, Gepke Visser, Peter GPA Smit, Sabine A Fuchs
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente
Brain–blood amino acid correlates following protein restriction in murine maple syrup urine disease
Kara R Vogel, Erland Arning, Brandi L Wasek, Sterling McPherson, Teodoro Bottiglieri, K Michael Gibson
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management
Wybrich R Cnossen, Joost PH Drenth
Lack of synergistic effect of resveratrol and sigma-1 receptor agonist (PRE-084) in SOD1G93A ALS mice: overlapping effects or limited therapeutic opportunity?
Renzo Mancuso, Jaume del Valle, Marta Morell, Mercé Pallás, Rosario Osta, Xavier Navarro
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease
Tim A Kanters, Iris Hoogenboom-Plug, Maureen PMH Rutten-Van Mölken, W Ken Redekop, Ans T van der Ploeg, Leona Hakkaart
Autoimmune pancreatitis can develop into chronic pancreatitis
Masahiro Maruyama, Takayuki Watanabe, Keita Kanai, Takaya Oguchi, Jumpei Asano, Tetsuya Ito, Yayoi Ozaki, Takashi Muraki, Hideaki Hamano, Norikazu Arakura, Shigeyuki Kawa
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts
Virginie Aires, Dominique Delmas, Carole Le Bachelier, Norbert Latruffe, Dimitri Schlemmer, Jean-François Benoist, Fatima Djouadi, Jean Bastin
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
Huiwen Zhang, Yu Wang, Na Lin, Rui Yang, Wenjuan Qiu, Lianshu Han, Jun Ye, Xuefan Gu
Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support
Andrew A Dwyer, Richard Quinton, Diane Morin, Nelly Pitteloud
Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Laurent Enaud, Alice Hadchouel, Aurore Coulomb, Laureline Berteloot, Florence Lacaille, Liliane Boccon-Gibod, Vincent Boulay, Françoise Darcel, Matthias Griese, Mélinée Linard, Malek Louha, Michel Renouil, Jean-Pierre Rivière, Bruno Toupance, Virginie Verkarre, Christophe Delacourt, Jacques de Blic
Respiratory bronchiolitis-interstitial lung disease
Alicja Sieminska, Krzysztof Kuziemski
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
Catia Cavicchi, Maria Alice Donati, Rossella Parini, Miriam Rigoldi, Mauro Bernardi, Francesca Orfei, Nicolò Gentiloni Silveri, Aniello Colasante, Silvia Funghini, Serena Catarzi, Elisabetta Pasquini, Giancarlo la Marca, Sean David Mooney, Renzo Guerrini, Amelia Morrone
IgG4- related disease: an orphan disease with many faces
Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl, Jochen Zwerina
A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington’s disease
Tua Vinther-Jensen, Ida U Larsen, Lena E Hjermind, Esben Budtz-Jørgensen, Troels T Nielsen, Anne Nørremølle, Jørgen E Nielsen, Asmus Vogel
Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency
Alberto López-Lera, Olga Pernia, Margarita López-Trascasa, Inmaculada Ibanez de Caceres
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
Sarah C Grünert
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)
Hao-Chuan Liu, Hsiang-Yu Lin, Chia-Feng Yang, Hsuan-Chieh Liao, Ting-Rong Hsu, Chiao-Wei Lo, Fu-Pang Chang, Chun-Kai Huang, Yung-Hsiu Lu, Shuan-Pei Lin, Wen-Chung Yu, Dau-Ming Niu
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
Thomas Wiesmann, Marco Castori, Fransiska Malfait, Hinnerk Wulf
A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
Kenichi Yasui, Ichiro Yabe, Kunihiro Yoshida, Kazuaki Kanai, Kimihito Arai, Mizuki Ito, Osamu Onodera, Shigeru Koyano, Eiji Isozaki, Setsu Sawai, Yoshiki Adachi, Hidenao Sasaki, Satoshi Kuwabara, Takamichi Hattori, Gen Sobue, Hidehiro Mizusawa, Shoji Tsuji, Masatoyo Nishizawa, Kenji Nakashima
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications
Laura van Dussen, Marieke Biegstraaten, Marcel GW Dijkgraaf, Carla EM Hollak
Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?
Giuseppe A Latino, Dale Brown, Richard H Glazier, Jonathan T Weyman, Marie E Faughnan
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowinska-Seidler, Sandra C Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann
Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule
Betty Hébert, Susanna Pietropaolo, Sandra Même, Béatrice Laudier, Anthony Laugeray, Nicolas Doisne, Angélique Quartier, Sandrine Lefeuvre, Laurence Got, Dominique Cahard, Frédéric Laumonnier, Wim E Crusio, Jacques Pichon, Arnaud Menuet, Olivier Perche, Sylvain Briault
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Sebene Mayorandan, Uta Meyer, Gülden Gokcay, Nuria Garcia Segarra, Hélène Ogier de Baulny, Francjan van Spronsen, Jiri Zeman, Corinne de Laet, Ute Spiekerkoetter, Eva Thimm, Arianna Maiorana, Carlo Dionisi-Vici, Dorothea Moeslinger, Michaela Brunner-Krainz, Amelie Sophia Lotz-Havla, José Angel Cocho de Juan, Maria Luz Couce Pico, René Santer, Sabine Scholl-Bürgi, Hanna Mandel, Yngve Thomas Bliksrud, Peter Freisinger, Luis Jose Aldamiz-Echevarria, Michel Hochuli, Matthias Gautschi, Jessica Endig, Jens Jordan, Patrick McKiernan, Stefanie Ernst, Susanne Morlot, Arndt Vogel, Johannes Sander, Anibh Martin Das
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Anna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, Claus Liebe, Jan Bürmann, Rudolf A Kley, Andreas Ferbert, Roland Anderheiden, Peter Van den Bergh, Jean-Jacques Martin, Peter De Jonghe, Eva Neuen-Jacob, Oliver Müller, Marcus Deschauer, Markus Bergmann, J Michael Schröder, Matthias Vorgerd, Jörg B Schulz, Joachim Weis, Wolfram Kress, Kristl G Claeys
Oxidative stress-dependent activation of collagen synthesis is induced in human pulmonary smooth muscle cells by sera from patients with scleroderma-associated pulmonary hypertension
Francesco Boin, Gian Luca Erre, Anna Maria Posadino, Annalisa Cossu, Roberta Giordo, Gaia Spinetti, Giuseppe Passiu, Costanza Emanueli, Gianfranco Pintus
The influence of the European paediatric regulation on marketing authorisation of orphan drugs for children
Annemarie Rosan Kreeftmeijer-Vegter, Anthonius de Boer, Roselinda H van der Vlugt-Meijer, Peter J de Vries
Systemic therapy of Cushing’s syndrome
Niels Eckstein, Bodo Haas, Moritz David Sebastian Hass, Vladlena Pfeifer
Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: A French prospective observational study performed in a reference center
Flora Frascari, Isabelle Dreyfus, Lauriane Rodriguez, Isabelle Gennero, Khaled Ezzedine, Jean-Pierre Salles, Juliette Mazereeuw-Hautier
In vitro and in vivotherapeutic approach for a small cell carcinoma of the ovary hypercalcaemic type using a SCCOHT-1 cellular model
Anna Otte, Finn Rauprich, Peter Hillemanns, Tjoung-Won Park-Simon, Juliane von der Ohe, Ralf Hass
Genotype-phenotype correlation in Pompe disease, a step forward
Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, Andrea Dardis, Corrado Angelini, Tiziana Mongini, Lucia Morandi, Maurizio Moggio, Antonio Di Muzio, Massimiliano Filosto, Bruno Bembi, Fabio Giannini, Giovanni Marrosu, Miriam Rigoldi, Paola Tonin, Serenella Servidei, Gabriele Siciliano, Annalisa Carlucci, Claudia Scotti, Mario Comelli, Antonio Toscano, Cesare Danesino
Follow-up on pediatric patients with bronchiolitis obliterans treated with corticosteroid pulse therapy
Silvia Onoda Tomikawa, Fabíola Villac Adde, Luiz Vicente Ribeiro Ferreira da Silva Filho, Claudio Leone, Joaquim Carlos Rodrigues
Towards the targeted management of Chediak-Higashi syndrome
Maria L Lozano, Jose Rivera, Isabel Sánchez-Guiu, Vicente Vicente
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
Alireza Haghighi, Tobias B Haack, Mehnaz Atiq, Hassan Mottaghi, Hamidreza Haghighi-Kakhki, Rani A Bashir, Uwe Ahting, René G Feichtinger, Johannes A Mayr, Agnès Rötig, Anne-Sophie Lebre, Thomas Klopstock, Andrea Dworschak, Nathan Pulido, Mahmood A Saeed, Nasrollah Saleh-Gohari, Eliska Holzerova, Patrick F Chinnery, Robert W Taylor, Holger Prokisch
The European Gaucher Alliance: a survey of member patient organisations’ activities, healthcare environments and concerns
Irena Žnidar, Tanya Collin-Histed, Pascal Niemeyer, Johanna Parkkinen, Anne-Grethe Lauridsen, Sandra Zariņa, Yossi Cohen, Jeremy Manuel
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
Kevin Berendse, Marc Engelen, Gabor E Linthorst, AS Paul van Trotsenburg, Bwee Tien Poll-The
A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Chen Tsai, Hsuan-Liang Liu, Shuan-Pei Lin
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial
Laurence Lion-François, François Gueyffier, Catherine Mercier, Daniel Gérard, Vania Herbillon, Isabelle Kemlin, Diana Rodriguez, Tiphanie Ginhoux, Emeline Peyric, Virginie Coutinho, Valentine Bréant, Vincent des Portes, Stéphane Pinson, Patrick Combemale, Behrouz Kassaï
Reimbursement of orphan drugs in Belgium: what (else) matters?
Eline Picavet, David Cassiman, Steven Simoens
A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region
Swee-Sung Soon, Gilberto Lopes, Hwee-Yong Lim, Durhane Wong-Rieger, Salmah Bahri, Lucy Hickinbotham, Anand Jha, Bor-Sheng Ko, Diana MacDonell, Jasmine Roah-Fang Pwu, Ruby Shih, Ekaphop Sirachainan, Dong-Churl Suh, Janet Wale, Xiao Zhang, Hwee-Lin Wee
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Annalisa Sechi, Andrea Dardis, Stefania Zampieri, Claudio Rabacchi, Paolo Zanoni, Sebastiano Calandra, Giovanna De Maglio, Stefano Pizzolitto, Valerio Maruotti, Antonio Di Muzio, Frances Platt, Bruno Bembi
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years
Rosella Tomanin, Alessandra Zanetti, Francesca D’Avanzo, Angelica Rampazzo, Nicoletta Gasparotto, Rossella Parini, Antonia Pascarella, Daniela Concolino, Elena Procopio, Agata Fiumara, Andrea Borgo, Anna Chiara Frigo, Maurizio Scarpa
Rare diseases and orphan drugs: Latvian story
Konstantins Logviss, Dainis Krievins, Santa Purvina
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
Helena Jahnova, Lenka Dvorakova, Hana Vlaskova, Helena Hulkova, Helena Poupetova, Martin Hrebicek, Pavel Jesina
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
Sylvia Stockler, Silvia Corvera, David Lambright, Kevin Fogarty, Ekaterina Nosova, Deborah Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicolas Au, Kathrin Selby, Margot van Allen, Hilary Vallance, Ron Wevers, David Watkins, David Rosenblatt, Colin J Ross, Elizabeth Conibear, Wyeth Wasserman, Clara van Karnebeek
Simpson-Golabi-Behmel syndrome types I and II
Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado, Pablo Lapunzina
Atypical multisensory integration in Niemann-Pick type C disease – towards potential biomarkers
Gizely N Andrade, Sophie Molholm, John S Butler, Alice B Brandwein, Steven U Walkley, John J Foxe
Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI
Heike Hoyer-Kuhn, Christian Netzer, Friederike Koerber, Eckhard Schoenau, Oliver Semler
STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Eigner Jablonski, Anne Kjersti Erichsen, Einar Gude, Jeanette A Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Helge Boman, Lise Bjørkhaug, Chantal ME Tallaksen, Per M Knappskog, Stefan Johansson
Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis
Sigrun Eick, Magdalena Puklo, Karina Adamowicz, Tomasz Kantyka, Pieter Hiemstra, Henning Stennicke, Arndt Guentsch, Beate Schacher, Peter Eickholz, Jan Potempa
Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition
Vip Viprakasit, Paul Tyan, Sarayuth Rodmai, Ali T Taher
Natural history of angiomyolipoma in lymphangioleiomyomatosis: implications for screening and surveillance
Zhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, Ian McCafferty, Richard B Hubbard, Simon R Johnson
Nationwide patient registry for GNE myopathy in Japan
Madoka Mori-Yoshimura, Yukiko K Hayashi, Naohiro Yonemoto, Harumasa Nakamura, Miho Murata, Shin’ichi Takeda, Ichizo Nishino, En Kimura
Orphan drugs expenditure in the Netherlands in the period 2006–2012
Tim A Kanters, Adri Steenhoek, Leona Hakkaart
Ovarian teratoma-associated anti-NMDAR encephalitis: a systematic review of reported cases
Pedro Acién, Maribel Acién, Eva Ruiz-Maciá, Carlos Martín-Estefanía
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Eiko Nagata, Hiroki Kano, Fumiko Kato, Rie Yamaguchi, Shinichi Nakashima, Shinichiro Takayama, Rika Kosaki, Hidefumi Tonoki, Seiji Mizuno, Satoshi Watanabe, Koh-ichiro Yoshiura, Tomoki Kosho, Tomonobu Hasegawa, Mamori Kimizuka, Atsushi Suzuki, Kenji Shimizu, Hirofumi Ohashi, Nobuhiko Haga, Hironao Numabe, Emiko Horii, Toshiro Nagai, Hiroshi Yoshihashi, Gen Nishimura, Tatsushi Toda, Shuji Takada, Shigetoshi Yokoyama, Hiroshi Asahara, Shinichiro Sano, Maki Fukami, Shiro Ikegawa, Tsutomu Ogata
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
Horst von Bernuth, Ethiraj Ravindran, Hang Du, Sebastian Fröhler, Karoline Strehl, Nadine Krämer, Lina Issa-Jahns, Borko Amulic, Olaf Ninnemann, Mei-Sheng Xiao, Katharina Eirich, Uwe Kölsch, Kathrin Hauptmann, Rainer John, Detlev Schindler, Volker Wahn, Wei Chen, Angela M Kaindl
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1
Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn, Angela M Kaindl
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu-Wai-Man, Matthew Anthony Kirkman, Alex Korsten, Irenaeus F De Coo, Patrick Francis Chinnery, Thomas Klopstock
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review
Nina A Zeltner, Martina Huemer, Matthias R Baumgartner, Markus A Landolt
Holt Oram syndrome: a registry-based study in Europe
Ingeborg Barisic, Ljubica Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, Jorieke EH Bergman, Paula Braz, Judith LS Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell, Vera Nelen, Anna Pierini, Annette Queisser-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, David Tucker, Christine Verellen-Dumoulin, Helen Dolk
Pharmaceutical pricing, cost containment and new treatments for rare diseases in children
Peter Stella, Gabrielle Gold-von Simson
Management of endocrino-metabolic dysfunctions after allogeneic hematopoietic stem cell transplantation
Marie-Christine Vantyghem, Jérôme Cornillon, Christine Decanter, Frédérique Defrance, Wassila Karrouz, Clara Leroy, Kristell Le Mapihan, Marie-Anne Couturier, Eva De Berranger, Eric Hermet, Natacha Maillard, Ambroise Marcais, Sylvie Francois, Reza Tabrizi, Ibrahim Yakoub-Agha
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study
Patrick R Benusiglio, Sophie Giraud, Sophie Deveaux, Arnaud Méjean, Jean-Michel Correas, Dominique Joly, Marc-Olivier Timsit, Sophie Ferlicot, Virginie Verkarre, Caroline Abadie, Dominique Chauveau, Dominique Leroux, Marie-Françoise Avril, Jean-François Cordier, Stéphane Richard
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication
Joo Hyun Park, Nayoung K D Kim, Ah Reum Kim, Jihye Rhee, Seung Ha Oh, Ja-Won Koo, Jae-Yong Nam, Woong-Yang Park, Byung Yoon Choi
Differences in immunoreactive trypsin values between type of feeding and ethnicity in neonatal cystic fibrosis screening: a cross-sectional study
Ernesto Cortés, Ana María Roldán, Antonio Palazón-Bru, María Mercedes Rizo-Baeza, Herminia Manero, Vicente Francisco Gil-Guillén
Molecular characterization of subcutaneous panniculitis-like T-cell lymphoma reveals upregulation of immunosuppression- and autoimmunity-associated genes
Pilvi Maliniemi, Sonja Hahtola, Kristian Ovaska, Leila Jeskanen, Liisa Väkevä, Kirsi Jäntti, Rudolf Stadler, David Michonneau, Sylvie Fraitag, Sampsa Hautaniemi, Annamari Ranki
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
Martina Huemer, Sabine Scholl-Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R Baumgartner, Daniela Karall
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán
A methodological framework for drug development in rare diseases
Patrice Nony, Polina Kurbatova, Agathe Bajard, Salma Malik, Charlotte Castellan, Sylvie Chabaud, Vitaly Volpert, Nathalie Eymard, Behrouz Kassai, Catherine Cornu
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases
Regina M Leadley, Shona Lang, Kate Misso, Trudy Bekkering, Janine Ross, Takeyuki Akiyama, Michael Fietz, Roberto Giugliani, Chris J Hendriksz, Ngu Lock Hock, Jim McGill, Andrew Olaye, Mohit Jain, Jos Kleijnen
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth AM Cornelissen, Dirk J Lefeber, Leo AB Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman, Elena Levtchenko
Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study
Raphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, Victoria Castaneda, Peter Chang, Rick Martin, Anna Wijatyk
A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov
Stuart A Bell, Catrin Tudur Smith
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
Jenna Hildebrandt, Ebru Yalcin, Hans-Georg Bresser, Guzin Cinel, Monika Gappa, Alireza Haghighi, Nural Kiper, Soheila Khalilzadeh, Karl Reiter, John Sayer, Nicolaus Schwerk, Anke Sibbersen, Sabine Van Daele, Georg Nübling, Peter Lohse, Matthias Griese
Identification and characterisation of eight novel SERPINA1 Null mutations
Ilaria Ferrarotti, Tomás P Carroll, Stefania Ottaviani, Anna M Fra, Geraldine O’Brien, Kevin Molloy, Luciano Corda, Daniela Medicina, David R Curran, Noel G McElvaney, Maurizio Luisetti
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
Imen Dorboz, Marie Coutelier, Anne T Bertrand, Jean-Hubert Caberg, Monique Elmaleh-Bergès, Jeanne Lainé, Giovanni Stevanin, Gisèle Bonne, Odile Boespflug-Tanguy, Laurent Servais
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
Lucia Abela, Barbara Plecko, Antonella Palla, Patricie Burda, Jean-Marc Nuoffer, Diana Ballhausen, Marianne Rohrbach
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
Hendriekje Eggink, Anouk Kuiper, Kathryn J Peall, Maria Fiorella Contarino, Annet M Bosch, Bart Post, Deborah A Sival, Marina AJ Tijssen, Tom J de Koning
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype
Michael Schelleckes, Malte Lenders, Katrin Guske, Boris Schmitz, Christian Tanislav, Sonja Ständer, Dieter Metze, Istvan Katona, Joachim Weis, Stefan-Martin Brand, Thomas Duning, Eva Brand
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
Shuke Nie, Guiqin Chen, Xuebing Cao, Yunjian Zhang
Genomic screening of testicular germ cell tumors from monozygotic twins
Sara Martoreli Silveira, Isabela Werneck da Cunha, Fabio Albuquerque Marchi, Ariane Fidelis Busso, Ademar Lopes, Silvia Regina Rogatto
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)
Stéphane Jean, Louis Richer, Luc Laberge, Jean Mathieu
TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex
John C Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J de Vries, Carla Fladrowski, Christoph Hertzberg, Anna C Jansen, Sergiusz Jozwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères, Elena Belousova, Tom Carter, Vincent Cottin, Maria Dahlin, José Carlos Ferreira, Alfons Macaya, Mirjana Perkovic Benedik, Valentin Sander, Sotirios Youroukos, Ramon Castellana, Bulent Ulker, Martha Feucht
Pregnancy complications in acquired thrombotic thrombocytopenic purpura: a case–control study
Barbara Ferrari, Alberto Maino, Luca A Lotta, Andrea Artoni, Silvia Pontiggia, Silvia M Trisolini, Alessandra Malato, Frits R Rosendaal, Flora Peyvandi
Glycogen storage disease type III: modified Atkins diet improves myopathy
Sebene Mayorandan, Uta Meyer, Hans Hartmann, Anibh Martin Das
Consensus clinical management guidelines for Friedreich ataxia
Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Elena Martín-Hernández, Luis Aldámiz-Echevarría, Esperanza Castejón-Ponce, Consuelo Pedrón-Giner, María Luz Couce, Juliana Serrano-Nieto, Guillem Pintos-Morell, Amaya Bélanger-Quintana, Mercedes Martínez-Pardo, María Teresa García-Silva, Pilar Quijada-Fraile, Isidro Vitoria-Miñana, Jaime Dalmau, Rosa A Lama-More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García-Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz-Pons, Luis J Peña-Quintana, Inmaculada Vives-Piñera, Ana Moráis, Elena Balmaseda-Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez-Cerdá
Cysteamine (Lynovex®), a novel mucoactive antimicrobial & antibiofilm agent for the treatment of cystic fibrosis
Cedric Charrier, Catherine Rodger, Jennifer Robertson, Aleksandra Kowalczuk, Nicola Shand, Douglas Fraser-Pitt, Derry Mercer, Deborah O’Neil
Effectiveness of cladribine therapy in patients with pulmonary Langerhans cell histiocytosis
Vincent Grobost, Chahera Khouatra, Romain Lazor, Jean-François Cordier, Vincent Cottin
Overcoming the barriers to diagnosis of Morquio A syndrome
Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy, Michael Fietz, Antony Fu, Dong Kyu Jin, Ok-Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Anita Inwood, Hsiang-Yu Lin, Jim McGill, Nancy J Mendelsohn, Torayuki Okuyama, Hasri Samion, Adeline Tan, Akemi Tanaka, Verasak Thamkunanon, Teck-Hock Toh, Albert D Yang, Shuan-Pei Lin
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review
Emma L Leach, Michael Shevell, Kristin Bowden, Sylvia Stockler-Ipsiroglu, Clara DM van Karnebeek
Prognostic implication of morphology, cyclinE2 and proliferation in EBV-associated T/NK lymphoproliferative disease in non-immunocompromised hosts
Siok-Bian Ng, Koichi Ohshima, Viknesvaran Selvarajan, Gaofeng Huang, Shoa-Nian Choo, Hiroaki Miyoshi, Shi Wang, Hsin-Chieh Chua, Allen Eng-Juh Yeoh, Thuan-Chong Quah, Liang-Piu Koh, Poh-Lin Tan, Wee-Joo Chng
Establishing medical plausibility in the context of orphan medicines designation in the European Union
Stelios Tsigkos, Segundo Mariz, Jordi Llinares, Laura Fregonese, Stiina Aarum, Naumann-Winter Frauke, Kerstin Westermark, Bruno Sepodes
Proceedings of the fourth international conference on central hypoventilation
Ha Trang, Jean-François Brunet, Hermann Rohrer, Jorge Gallego, Jeanne Amiel, Tiziana Bachetti, Kenneth H Fischbeck, Thomas Similowski, Christian Straus, Isabella Ceccherini, Debra E Weese-Mayer, Matthias Frerick, Katarzyna Bieganowska, Linda Middleton, Francesco Morandi, Giancarlo Ottonello
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames
Karin SG Cunha, Rafaela E Rozza-de-Menezes, Raquel M Andrade, Amy Theos, Ronir R Luiz, Bruce Korf, Mauro Geller
Frequency of the virilising effects of attenuated androgens reported by women with hereditary angioedema
Zsuzsanna Zotter, Nóra Veszeli, Dorottya Csuka, Lilian Varga, Henriette Farkas
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating, Carmen Ayuso
Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy
Ilya Chumakov, Aude Milet, Nathalie Cholet, Gwenaël Primas, Aurélie Boucard, Yannick Pereira, Esther Graudens, Jonas Mandel, Julien Laffaire, Julie Foucquier, Fabrice Glibert, Viviane Bertrand, Klaus-Armin Nave, Michael W Sereda, Emmanuel Vial, Mickaël Guedj, Rodolphe Hajj, Serguei Nabirotchkin, Daniel Cohen
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome
Sara Sheikhzadeh, Julie De Backer, Neda Rahimian Gorgan, Meike Rybczynski, Mathias Hillebrand, Helke Schüler, Alexander M Bernhardt, Dietmar Koschyk, Peter Bannas, Britta Keyser, Kai Mortensen, Robert M Radke, Thomas S Mir, Tilo Kölbel, Peter N Robinson, Jörg Schmidtke, Jürgen Berger, Stefan Blankenberg, Yskert von Kodolitsch
Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally
Shay Porat, Maud de Rham, Davide Giamboni, Tim Van Mieghem, David Baud
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
Claire Desplantes, Marie Louise Fremond, Blandine Beaupain, Jean Luc Harousseau, Agnès Buzyn, Isabelle Pellier, Gaelle Roques, Pierre Morville, Catherine Paillard, Julie Bruneau, Lucile Pinson, Eric Jeziorski, Jean Pierre Vannier, Capucine Picard, Florence Bellanger, Norma Romero, Loïc de Pontual, Hélène Lapillonne, Patrick Lutz, Christine Bellanné Chantelot, Jean Donadieu
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations
Liliana Matos, Isaac Canals, Larbi Dridi, Yoo Choi, Maria João Prata, Peter Jordan, Lourdes R Desviat, Belén Pérez, Alexey V Pshezhetsky, Daniel Grinberg, Sandra Alves, Lluïsa Vilageliu
Bullous pemphigoid in infants: characteristics, diagnosis and treatment
Agnes Schwieger-Briel, Cornelia Moellmann, Birgit Mattulat, Franziska Schauer, Dimitra Kiritsi, Enno Schmidt, Cassian Sitaru, Hagen Ott, Johannes S Kern
Results from the French National Esophageal Atresia register: one-year outcome
Anne Schneider, Sébastien Blanc, Arnaud Bonnard, Naziha Khen-Dunlop, Frédéric Auber, Anne Breton, Guillaume Podevin, Rony Sfeir, Virginie Fouquet, Catherine Jacquier, Jean-Louis Lemelle, Frédéric Lavrand, François Becmeur, Thierry Petit, Marie-Laurence Poli-Merol, Frédéric Elbaz, Thierry Merrot, Jean-Luc Michel, Allal Hossein, Manuel Lopez, Edouard Habonimana, Cécile Pelatan, Pascal De Lagausie, Philippe Buisson, Philine de Vries, Jean Gaudin, Hubert Lardy, Corine Borderon, Joséphine Borgnon, Olivier Jaby, Dominique Weil, Didier Aubert, Stephan Geiss, Jean Breaud, Anis Echaieb, Jane Languepin, Christophe Laplace, Myriam Pouzac, François Lefebvre, Frédéric Gottrand, Laurent Michaud
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu-Dramard, Catherine Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire de Baracé, Valérie Drouin-Garraud, Philippe Khau Van Kien, Valérie Cormier-Daire, Michèle Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron
Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen
Marco Pozzi, Luigi Piccinini, Maurizio Gallo, Francesco Motta, Sonia Radice, Emilio Clementi
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development
Dorien Baetens, Wilhelm Mladenov, Barbara Delle Chiaie, Björn Menten, An Desloovere, Violeta Iotova, Bert Callewaert, Erik Van Laecke, Piet Hoebeke, Elfride De Baere, Martine Cools
Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany
Olivia Schreiber-Katz, Constanze Klug, Simone Thiele, Elisabeth Schorling, Janet Zowe, Peter Reilich, Klaus H Nagels, Maggie C Walter
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme, Armelle Magot, Laurène Leclair-Visonneau, Tanya Stojkovic, Laura Bossi, Philippe Lehert, Walter Gilbert, Viviane Bertrand, Jonas Mandel, Aude Milet, Rodolphe Hajj, Lamia Boudiaf, Catherine Scart-Grès, Serguei Nabirotchkin, Mickael Guedj, Ilya Chumakov, Daniel Cohen
Ventricular septal defect
Diane E Spicer, Hao H Hsu, Jennifer Co-Vu, Robert H Anderson, F Jay Fricker
Relapsing polychondritis: clinical presentations, disease activity and outcomes
Aman Sharma, Arjun Dutt Law, Pradeep Bambery, Vinay Sagar, Ajay Wanchu, Varun Dhir, Rajesh Vijayvergiya, Kusum Sharma, Ashok Gupta, Naresh K Panda, Surjit Singh
Oxidative stress and mitochondrial dysfunction in Kindler syndrome
Elisabeth Zapatero-Solana, Jose Luis García-Giménez, Sara Guerrero-Aspizua, Marta García, Agustí Toll, Eulalia Baselga, Maria Durán-Moreno, Jelena Markovic, Jose Manuel García-Verdugo, Claudio J Conti, Cristina Has, Fernando Larcher, Federico V Pallardó, Marcela Del Rio
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response
Le Wang, Kamila Rosamilia Kantovitz, Andrew Robert Cullinane, Francisco Humberto Nociti, Brian Lee Foster, Joseph Concepcion Roney, Anne Bich Tran, Wendy Jewell Introne, Martha Joan Somerman
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study
Isabel Sánchez-Guiu, Ana I Antón, José Padilla, Francisco Velasco, José F Lucia, Miguel Lozano, Ana Rosa Cid, Teresa Sevivas, María F Lopez-Fernandez, Vicente Vicente, Consuelo González-Manchón, José Rivera, María L Lozano
Thymectomy for non-thymomatous myasthenia gravis: a propensity score matched study
Carolina Barnett, Hans D Katzberg, Shaf Keshavjee, Vera Bril
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin, Aida Ormazabal, Mercè Pineda, María T García-Silva, Rafael Artuch
Severity score for hereditary hemorrhagic telangiectasia
Giuseppe A Latino, Helen Kim, Jeffrey Nelson, Ludmila Pawlikowska, William Young, Marie E Faughnan
Sneddon’s syndrome: a comprehensive review of the literature
Shengjun Wu, Ziqi Xu, Hui Liang
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome
Marios Kambouris, Rachid C Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, Rehab Ali, Hala Boulos, Patrick A Curmi, Hatem El-Shanti
The European Cystic Fibrosis Society Patient Registry: valuable lessons learned on how to sustain a disease registry
Laura Viviani, Anna Zolin, Anil Mehta, Hanne Vebert Olesen
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis
Qiang Gang, Conceição Bettencourt, Pedro Machado, Michael G Hanna, Henry Houlden
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations
Muriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, Ana-Carolina Acevedo, Alan J Mighell, Miikka Vikkula, Mathilde Huckert, Ariane Berdal, Agnes Bloch-Zupan
Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS
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