Ausgabe 1/2015
Inhalt (163 Artikel)
Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension
Guillermo Pousada, Adolfo Baloira, Diana Valverde
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
Emmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, Aleksandra Nadaj-Pakleza, Julien Niederhauser, Estelle Charles, Elisabeth Ollagnon, Françoise Bouhour, Sabrina Sacconi, Andoni Echaniz-Laguna, Claude Desnuelle, Christine Tranchant, Christophe Vial, Frederique Magdinier, Marc Bartoli, Marie-Christine Arne-Bes, Xavier Ferrer, Thierry Kuntzer, Nicolas Levy, Jean Pouget, Shahram Attarian
Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis
Tolga Atilla Sagban, Rüdiger E Scharf, Markus U Wagenhäuser, Alexander Oberhuber, Hubert Schelzig, Klaus Grabitz, Mansur Duran
Diagnosis and treatment of congenital abdominal aortic aneurysm: a systematic review of reported cases
Yamei Wang, Yuhong Tao
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China
Xihua Li, Lei Zhao, Shuizhen Zhou, Chaoping Hu, Yiyun Shi, Wei Shi, Hui Li, Fang Liu, Bingbing Wu, Yi Wang
Prognostic and predictive role of CXCR4, IGF-1R and Ezrin expression in localized synovial sarcoma: is chemotaxis important to tumor response?
Emanuela Palmerini, Maria Serena Benassi, Irene Quattrini, Laura Pazzaglia, Davide Donati, Stefania Benini, Gabriella Gamberi, Marco Gambarotti, Piero Picci, Stefano Ferrari
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
Irène Ceballos-Picot, Aurélia Le Dantec, Anaïs Brassier, Jean-Philippe Jaïs, Morgan Ledroit, Julie Cahu, Hang-Korng Ea, Bertrand Daignan-Fornier, Benoît Pinson
Vitamin D and skeletal health in autoimmune bullous skin diseases: a case control study
Angelo Valerio Marzano, Valentina Trevisan, Elisa Cairoli, Cristina Eller-Vainicher, Valentina Morelli, Anna Spada, Carlo Crosti, Iacopo Chiodini
Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients
Laurence Campens, Bert Callewaert, Laura Muiño Mosquera, Marjolijn Renard, Sofie Symoens, Anne De Paepe, Paul Coucke, Julie De Backer
Cost effective assay choice for rare disease study designs
Desmond D Campbell, Robert M Porsch, Stacey S Cherny, Valeria Capra, Elisa Merello, Patrizia De Marco, Pak C Sham, Maria-Mercè Garcia-Barceló
A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy
Andrea Zanichelli, Francesco Arcoleo, Maria Pina Barca, Paolo Borrelli, Maria Bova, Mauro Cancian, Marco Cicardi, Enrico Cillari, Caterina De Carolis, Tiziana De Pasquale, Isabella Del Corso, Paola Cesinaro Di Rocco, Maria Domenica Guarino, Ilaria Massaro, Paola Minale, Vincenzo Montinaro, Sergio Neri, Roberto Perricone, Stefano Pucci, Paolina Quattrocchi, Oliviero Rossi, Massimo Triggiani, Giuseppina Zanierato, Alessandra Zoli
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, Jaina Patel, Elizabeth J Donner, William Logan, Roberto Mendoza-Londono, Mahendranath Moharir, Julian Raiman, Andreas Schulze, Komudi Siriwardena, Grace Yoon, Lianna Kyriakopoulou
New spastic paraplegia phenotype associated to mutation of NFU1
Davide Tonduti, Imen Dorboz, Apolline Imbard, Abdelhamid Slama, Audrey Boutron, Samia Pichard, Monique Elmaleh, Louis Vallée, Jean François Benoist, Heléne Ogier, Odile Boespflug-Tanguy
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience
Iris Scala, Daniela Concolino, Roberto Della Casa, Anna Nastasi, Carla Ungaro, Serena Paladino, Brunella Capaldo, Margherita Ruoppolo, Aurora Daniele, Giuseppe Bonapace, Pietro Strisciuglio, Giancarlo Parenti, Generoso Andria
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper, Hanno Jörn Bolz
Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints
Emil D Kakkis, Mary O’Donovan, Gerald Cox, Mark Hayes, Federico Goodsaid, PK Tandon, Pat Furlong, Susan Boynton, Mladen Bozic, May Orfali, Mark Thornton
Bone health in phenylketonuria: a systematic review and meta-analysis
Serwet Demirdas, Katie E Coakley, Peter H Bisschop, Carla E M Hollak, Annet M Bosch, Rani H Singh
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study
Kaustuv Bhattacharya, Helen Mundy, Maggie F Lilburn, Michael P Champion, David W Morley, François Maillot
Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
Linda Rossi-Semerano, Bruno Fautrel, Daniel Wendling, Eric Hachulla, Caroline Galeotti, Luca Semerano, Isabelle Touitou, Isabelle Koné-Paut
Clinical characteristics and prognostic factors of adult hemophagocytic syndrome patients: a retrospective study of increasing awareness of a disease from a single-center in China
Fei Li, Yijun Yang, Fengyan Jin, Casey Dehoedt, Jia Rao, Yulan Zhou, Pu Li, Ganping Yang, Min Wang, Rongyan Zhang, Ye Yang
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar, Sabine Scholl-Bürgi
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Simona Fecarotta, Alfonso Romano, Roberto Della Casa, Ennio Del Giudice, Diana Bruschini, Giuseppina Mansi, Bruno Bembi, Andrea Dardis, Agata Fiumara, Maja Di Rocco, Graziella Uziel, Anna Ardissone, Dario Roccatello, Mirella Alpa, Enrico Bertini, Adele D’Amico, Carlo Dionisi-Vici, Federica Deodato, Stefania Caviglia, Antonio Federico, Silvia Palmeri, Orazio Gabrielli, Lucia Santoro, Alessandro Filla, Cinzia Russo, Giancarlo Parenti, Generoso Andria
The genotypic and phenotypic spectrum of PIGA deficiency
Maja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J Ross, Wendy P Robinson, Wyeth W Wasserman, Andrea Rossi, Clara DM van Karnebeek
High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case–control study
Karin Soares Cunha, Rafaela Elvira Rozza-de-Menezes, Eloá Borges Luna, Lilian Machado de Sousa Almeida, Raquel Richelieu Lima de Andrade Pontes, Paula Nascimento Almeida, Letícia Vidaurre de Aguiar, Eliane Pedra Dias
The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies
Carla Colombo, Emanuela Minna, Maria Grazia Rizzetti, Paola Romeo, Daniele Lecis, Luca Persani, Piera Mondellini, Marco A Pierotti, Angela Greco, Laura Fugazzola, Maria Grazia Borrello
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
Jessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, William P Bone, Valerie Maduro, John Accardi, David R Adams, Charles E Schwartz, Joy Norris, Tim Wood, Rachel I Gafni, Michael T Collins, Laura L Tosi, Thomas C Markello, William A Gahl, Cornelius F Boerkoel
A proposed definition of rare diseases for China: from the perspective of return on investment in new orphan drugs
Yazhou Cui, Jinxiang Han
The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi-Vici
The natural history of adult pulmonary Langerhans cell histiocytosis: a prospective multicentre study
Abdellatif Tazi, Constance de Margerie, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre, Sylvie Chevret
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency
Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, Nathalie Bednarek, Catherine Caillaud, Yves Chaix, Marie-Ange Delrue, Anne Dusser, Roseline Froissart, Roselyne Garnotel, Nathalie Guffon, André Megarbane, Hélène Ogier de Baulny, Jean-Michel Pédespan, Samia Pichard, Vassili Valayannopoulos, Alain Verloes, Thierry Levade
Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type
Joanna Moes-Sosnowska, Lukasz Szafron, Dorota Nowakowska, Agnieszka Dansonka-Mieszkowska, Agnieszka Budzilowska, Bozena Konopka, Joanna Plisiecka-Halasa, Agnieszka Podgorska, Iwona K Rzepecka, Jolanta Kupryjanczyk
Olmsted syndrome: clinical, molecular and therapeutic aspects
Sabine Duchatelet, Alain Hovnanian
Familial Mediterranean fever without MEFV mutations: a case–control study
Ilan Ben-Zvi, Corinne Herskovizh, Olga Kukuy, Yonatan Kassel, Chagai Grossman, Avi Livneh
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding
Ségolène Aymé, Bertrand Bellet, Ana Rath
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, Lut Boks, Franco Cecchi, Patrick B Deegan, Ulla Feldt-Rasmussen, Tarekegn Geberhiwot, Dominique P Germain, Chris Hendriksz, Derralynn A Hughes, Ilkka Kantola, Nesrin Karabul, Christine Lavery, Gabor E Linthorst, Atul Mehta, Erica van de Mheen, João P Oliveira, Rossella Parini, Uma Ramaswami, Michael Rudnicki, Andreas Serra, Claudia Sommer, Gere Sunder-Plassmann, Einar Svarstad, Annelies Sweeb, Wim Terryn, Anna Tylki-Szymanska, Camilla Tøndel, Bojan Vujkovac, Frank Weidemann, Frits A Wijburg, Peter Woolfson, Carla EM Hollak
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Sandra Sirrs, Clara DM van Karnebeek, Xiaoxue Peng, Casper Shyr, Maja Tarailo-Graovac, Rupasri Mandal, Daniel Testa, Devin Dubin, Gregory Carbonetti, Steven E Glynn, Bryan Sayson, Wendy P Robinson, Beomsoo Han, David Wishart, Colin J Ross, Wyeth W Wasserman, Trevor A Hurwitz, Graham Sinclair, Martin Kaczocha
Progressive hemifacial atrophy: a review
Stanislav N Tolkachjov, Nirav G Patel, Megha M Tollefson
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Johannes Koch, Peter Freisinger, René G Feichtinger, Franz A Zimmermann, Christian Rauscher, Hans P Wagentristl, Vassiliki Konstantopoulou, Rainer Seidl, Tobias B Haack, Holger Prokisch, Uwe Ahting, Wolfgang Sperl, Johannes A Mayr, Esther M Maier
Innovation by patients with rare diseases and chronic needs
Pedro Oliveira, Leid Zejnilovic, Helena Canhão, Eric von Hippel
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
Abhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, Jean Mercer, Heather J Church, Karen L Tylee, Robert F Wynn, Frits A Wijburg, Simon A Jones, Iain A Bruce, Brian W Bigger
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
Nathalie Guffon, Bénédicte Heron, Brigitte Chabrol, François Feillet, Vincent Montauban, Vassili Valayannopoulos
Phenotypic and molecular insights into CASK-related disorders in males
Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger Yntema, Björn Menten, Joachim Pietz, Rolph Pfundt, Jörg Schmidtke, Doris Steinemann, Constance T Stumpel, Lionel Van Maldergem, Kerstin Kutsche
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study
Etty Osher, Aviva Fattal-Valevski, Liora Sagie, Nataly Urshanski, Nadav Sagiv, Leah Peleg, Tally Lerman-Sagie, Ari Zimran, Deborah Elstein, Ruth Navon, Avi Valevski, Naftali Stern
Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act
Konstantin Mechler, William K Mountford, Georg F Hoffmann, Markus Ries
Reversible cerebral vasoconstriction syndrome following red blood cells transfusion: a case series of 7 patients
Hui Liang, Ziqi Xu, Zhijun Zheng, Haiyan Lou, Wei Yue
Prediction of survival for patients with pemphigus vulgaris and pemphigus foliaceus: a retrospective cohort study
Adrian Baican, Roxana Chiorean, Daniel Corneliu Leucuta, Corina Baican, Sorina Danescu, Dorina Ciuce, Cassian Sitaru
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
Emma Heslop, Cristina Csimma, Volker Straub, John McCall, Kanneboyina Nagaraju, Kathryn R Wagner, Didier Caizergues, Rudolf Korinthenberg, Kevin M Flanigan, Petra Kaufmann, Elizabeth McNeil, Jerry Mendell, Sharon Hesterlee, Dominic J Wells, Kate Bushby
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)
Arian Pano, Ann J Barbier, Bonnie Bielefeld, David AH Whiteman, David A Amato
Rhabdomyolysis: a genetic perspective
Renata Siciliani Scalco, Alice R Gardiner, Robert DS Pitceathly, Edmar Zanoteli, Jefferson Becker, Janice L Holton, Henry Houlden, Heinz Jungbluth, Ros Quinlivan
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy JL de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula
Principles for consistent value assessment and sustainable funding of orphan drugs in Europe
Laura Gutierrez, Julien Patris, Adam Hutchings, Warren Cowell
Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits
Trinity Mahede, Geoff Davis, April Rutkay, Sarah Baxendale, Wenxing Sun, Hugh JS Dawkins, Caron Molster, Caroline E Graham
Drug repositioning can accelerate discovery of pharmacological chaperones
Bruno Hay Mele, Valentina Citro, Giuseppina Andreotti, Maria Vittoria Cubellis
CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors
Mones Saleh, Gess Burkhardt, Bordignon Benoit, Altié Alexandre, Young Peter, Bihel Frederic, Fraterno Marc, Peiretti Franck, Fontes Michel
Biological parameters predictive of percent dense red blood cell decrease under hydroxyurea
Marie Georgine Rakotoson, Gaetana Di Liberto, Etienne Audureau, Anoosha Habibi, Christine Fauroux, Sanam Khorgami, Anne Hulin, Sylvain Loric, France Noizat-Pirenne, Frédéric Galacteros, Pablo Bartolucci
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Anais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, Vassili Valayannopoulos, Florence Habarou, Manoelle Kossorotoff, Aude Servais, Valerie Barbier, Sandrine Dubois, Guy Touati, Robert Barouki, Fabrice Lesage, Laurent Dupic, Jean Paul Bonnefont, Chris Ottolenghi, Pascale De Lonlay
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires
Antoine Regnault, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, Khadra Benmedjahed, Annet M Bosch
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss
Kunio Mizutari, Hideki Mutai, Kazunori Namba, Yuko Miyanaga, Atsuko Nakano, Yukiko Arimoto, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Kimitaka Kaga, Tatsuo Matsunaga
Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients
Shigeaki Suzuki, Atsuko Nishikawa, Masataka Kuwana, Hiroaki Nishimura, Yurika Watanabe, Jin Nakahara, Yukiko K. Hayashi, Norihiro Suzuki, Ichizo Nishino
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1
Jérôme Stirnemann, Christian Rose, Christine Serratrice, Florence Dalbies, Olivier Lidove, Agathe Masseau, Yves-Marie Pers, Camille Baron, Nadia Belmatoug
Prevalence of pemphigus and pemphigoid autoantibodies in the general population
Wiebke Prüßmann, Jasper Prüßmann, Hiroshi Koga, Andreas Recke, Hiroaki Iwata, David Juhl, Siegfried Görg, Reinhard Henschler, Takashi Hashimoto, Enno Schmidt, Detlef Zillikens, Saleh M. Ibrahim, Ralf J. Ludwig
Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)
Neal J. Weinreb, David N. Finegold, Eleanor Feingold, Zhen Zeng, Barry E. Rosenbloom, Suma P. Shankar, Dominick Amato
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Marc C Patterson, Eugen Mengel, Marie T Vanier, Barbara Schwierin, Audrey Muller, Peter Cornelisse, Mercè Pineda
Selective cognitive and psychiatric manifestations in Wolfram Syndrome
Allison N. Bischoff, Angela M. Reiersen, Anna Buttlaire, Amal Al-lozi, Tasha Doty, Bess A. Marshall, Tamara Hershey
Idiopathic non-cirrhotic portal hypertension: a review
Jeoffrey NL Schouten, Joanne Verheij, Susana Seijo
Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries
Mojca Zerjav Tansek, Urh Groselj, Natalija Angelkova, Dana Anton, Ivo Baric, Maja Djordjevic, Lindita Grimci, Maria Ivanova, Adil Kadam, Vjosa Kotori, Hajrija Maksic, Oana Marginean, Otilia Margineanu, Olivera Miljanovic, Florentina Moldovanu, Mariana Muresan, Michaela Nanu, Mira Samardzic, Vladimir Sarnavka, Aleksei Savov, Maja Stojiljkovic, Biljana Suzic, Radka Tincheva, Husref Tahirovic, Alma Toromanovic, Natalia Usurelu, Tadej Battelino
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy
Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á. Martos-Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M. L. van Spaendonk, Nicole I. Wolf, Geneviève Bernard
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, Flemming Wibrand, Helle Bagterp Klenow, Michael Beck, Yasmina Amraoui, Laila Arash, Jens Fogh, Øivind Nilssen, Christine I Dali, Allan Meldgaard Lund
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young
Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
Wenping Cai, Beizhan Jiang, Tienan Feng, Jinfeng Xue, Jianhua Yang, Zhenghu Chen, Junjun Liu, Rongbin Wei, Shangfeng Liu, Shouliang Zhao, Xiaoping Wang
ALG8-CDG: novel patients and review of the literature
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J. Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke, Daniela Karall
A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment
Jonas Mandel, Viviane Bertrand, Philippe Lehert, Shahram Attarian, Laurent Magy, Joëlle Micallef, Ilya Chumakov, Catherine Scart-Grès, Mickael Guedj, Daniel Cohen
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations
F. J. Probst, R. A. James, L. C. Burrage, J. A. Rosenfeld, T. P. Bohan, C. H. Ward Melver, P. Magoulas, E. Austin, A. I. A. Franklin, M. Azamian, F. Xia, A. Patel, W. Bi, C. Bacino, J.W. Belmont, S. M. Ware, C. Shaw, S.W. Cheung, S. R. Lalani
Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever
Fawaz Awad, Sophie Georgin-Lavialle, Anne Brignier, Coralie Derrieux, Achille Aouba, Katia Stankovic-Stojanovic, Gilles Grateau, Serge Amselem, Olivier Hermine, Sonia-Athina Karabina
Quality of life in patients with Fabry disease: a systematic review of the literature
Maarten Arends, Carla E. M. Hollak, Marieke Biegstraaten
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
Anne-Katrin Giese, Hermann Mascher, Ulrike Grittner, Sabrina Eichler, Guido Kramp, Jan Lukas, Danielle te Vruchte, Nada Al Eisa, Mario Cortina-Borja, Forbes D Porter, Frances M Platt, Arndt Rolfs
Clinical and biochemical characterization of four patients with mutations in ECHS1
Sacha Ferdinandusse, Marisa W. Friederich, Alberto Burlina, Jos P. N. Ruiter, Curtis R. Coughlin II, Megan K. Dishop, Renata C. Gallagher, Jirair K. Bedoyan, Frédéric M. Vaz, Hans R. Waterham, Katherine Gowan, Kathryn Chatfield, Kaitlyn Bloom, Michael J. Bennett, Orly Elpeleg, Johan L. K. Van Hove, Ronald J. A. Wanders
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Annet M Bosch, Alberto Burlina, Amy Cunningham, Esther Bettiol, Flavie Moreau-Stucker, Ekaterina Koledova, Khadra Benmedjahed, Antoine Regnault
A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat
Tatiana Remenova, Olivier Morand, Dominick Amato, Harbajan Chadha-Boreham, Scott Tsurutani, Thorsten Marquardt
How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration
Pat Furlong, John F. P. Bridges, Lawrence Charnas, Justin R. Fallon, Ryan Fischer, Kevin M. Flanigan, Timothy R. Franson, Neera Gulati, Craig McDonald, Holly Peay, H. Lee Sweeney
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study
Nicola C. Edwards, William E. Moody, Mengshi Yuan, Adrian T. Warfield, Robert Cramb, Richard B. Paisey, Tarekegn Geberhiwot, Richard P. Steeds
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D. Mueller, Birgit S. Budde, Christopher T. Gordon, Denise Horn, Petra Seemann, Guntram Borck
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Elise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, Eric Souied, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
Yael Shinar, Tali Tohami, Avi Livneh, Ginette Schiby, Abraham Hirshberg, Meital Nagar, Itamar Goldstein, Rinat Cohen, Olga Kukuy, Ora Shubman, Yehonatan Sharabi, Eva Gonzalez-Roca, Juan I. Arostegui, Gideon Rechavi, Ninnette Amariglio, Ophira Salomon
Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program
Linda E. M. van den Berg, Marein M. Favejee, Stephan C. A. Wens, Michelle E. Kruijshaar, Stephan F. E. Praet, Arnold J. J. Reuser, Johannes B. J. Bussmann, Pieter A. van Doorn, Ans T. van der Ploeg
Quality of life in patients with locked-in syndrome: Evolution over a 6-year period
Marie-Christine Rousseau, Karine Baumstarck, Marine Alessandrini, Véronique Blandin, Thierry Billette de Villemeur, Pascal Auquier
Idiopathic (primary) achalasia: a review
Dhyanesh A. Patel, Hannah P. Kim, Jerry S. Zifodya, Michael F. Vaezi
Excellent long-term outcome of renal transplantation in cystinosis patients
Camille Cohen, Marina Charbit, Bernadette Chadefaux-Vekemans, Magali Giral, Valérie Garrigue, Michèle Kessler, Corinne Antoine, Renaud Snanoudj, Patrick Niaudet, Henri Kreis, Christophe Legendre, Aude Servais
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation
Daniela Melis, Alessandro Rossi, Rosario Pivonello, Mariacarolina Salerno, Francesca Balivo, Simona Spadarella, Giovanna Muscogiuri, Roberto Della Casa, Pietro Formisano, Generoso Andria, Annamaria Colao, Giancarlo Parenti
The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review
Y. Schuller, C. E. M. Hollak, M. Biegstraaten
Malignant hyperthermia: a review
Henry Rosenberg, Neil Pollock, Anja Schiemann, Terasa Bulger, Kathryn Stowell
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report
Alexander A. Boucher, Weston Miller, Ryan Shanley, Richard Ziegler, Troy Lund, Gerald Raymond, Paul J. Orchard
Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis
Teguh Haryo Sasongko, Nur Farrah Dila Ismail, Nik Mohamad Ariff Nik Abdul Malik, Z. A. M. H. Zabidi-Hussin
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
Malika Dahmani, Fatima Ammar-Khodja, Crystel Bonnet, Gaelle M. Lefèvre, Jean-Pierre Hardelin, Hassina Ibrahim, Zahia Mallek, Christine Petit
Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitis
Alastair K. Denniston, Gary N. Holland, Andrej Kidess, Robert B. Nussenblatt, Annabelle A. Okada, James T. Rosenbaum, Andrew D. Dick
A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis
Chana I.C. Chin, Shirleen Loloyan Kohn, Thomas G. Keens, Monique F. Margetis, Roberta M. Kato
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James, Sook Kim, Stanley H. Korman, Robin Lachmann, Harvey Levy, Martin Lindner, Lilia Lykopoulou, Ertan Mayatepek, Ania Muntau, Yoshiyuki Okano, Kimiyo Raymond, Estela Rubio-Gozalbo, Sabine Scholl-Bürgi, Andreas Schulze, Rani Singh, Sally Stabler, Mary Stuy, Janet Thomas, Conrad Wagner, William G. Wilson, Saskia Wortmann, Shigenori Yamamoto, Maryland Pao, Henk J. Blom
Compassionate use of orphan drugs
Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox, Jonathan C. P. Roos
Naproxcinod shows significant advantages over naproxen in the mdx model of Duchenne Muscular Dystrophy
Daniela Miglietta, Clara De Palma, Clara Sciorati, Barbara Vergani, Viviana Pisa, Antonello Villa, Ennio Ongini, Emilio Clementi
The media and access issues: content analysis of Canadian newspaper coverage of health policy decisions
Christen Rachul, Timothy Caulfield
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours
Sarah F. Barclay, Casey M. Rand, Lauren A. Borch, Lisa Nguyen, Paul A. Gray, William T. Gibson, Richard J. A. Wilson, Paul M. K. Gordon, Zaw Aung, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, Debra E. Weese-Mayer, N. Torben Bech-Hansen
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, Matthias R. Baumgartner, Luisa Bonafé, Cecilia Giunta, Marianne Rohrbach
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara Sarasua, Walter E. Kaufmann
Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome
Veronique Beauloye, K. Dhondt, W. Buysse, A. Nyakasane, F. Zech, J. De Schepper, S. Van Aken, K. De Waele, M. Craen, I. Gies, I. Francois, D. Beckers, A. Desloovere, G. Francois, M. Cools
Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease
Ashish R. Pinnapureddy, Cherie Stayner, John McEwan, Olivia Baddeley, John Forman, Michael R. Eccles
Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge, Chantal ME Tallaksen
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
Ole B Suhr, Teresa Coelho, Juan Buades, Jean Pouget, Isabel Conceicao, John Berk, Hartmut Schmidt, Márcia Waddington-Cruz, Josep M. Campistol, Brian R. Bettencourt, Akshay Vaishnaw, Jared Gollob, David Adams
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène de Leersnyder, Patricia Franco, Vincent Des Portes, Patrick Edery, Caroline Demily
A conceptual disease model for adult Pompe disease
Tim A. Kanters, W. Ken Redekop, Maureen P.M.H. Rutten-Van Mölken, Michelle E. Kruijshaar, Deniz Güngör, Ans T. van der Ploeg, Leona Hakkaart
Self-administered version of the Fabry-associated pain questionnaire for adult patients
Barbara Magg, Christoph Riegler, Silke Wiedmann, Peter Heuschmann, Claudia Sommer, Nurcan Üçeyler
Meier-Gorlin syndrome
Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine VAM Knoers, Han G. Brunner, Andrew P. Jackson, Ernie MHF Bongers
Ichthyosis with confetti: clinics, molecular genetics and management
Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia, Giovanna Zambruno
Paediatric Chordomas
Kévin Beccaria, Christian Sainte-Rose, Michel Zerah, Stéphanie Puget
Genital ulcer severity score and genital health quality of life in Behçet’s disease
Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier, Farida Fortune
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients
Virginia Albiñana, Karina Villar Gómez de las Heras, Gemma Serrano-Heras, Tomás Segura, Ana Belén Perona-Moratalla, Mercedes Mota-Pérez, José María de Campos, Luisa María Botella
Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
Wenping Cai, Beizhan Jiang, Tienan Feng, Jinfeng Xue, Jianhua Yang, Zhenghu Chen, Junjun Liu, Rongbin Wei, Shouliang Zhao, Xiaoping Wang, Shangfeng Liu
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
Arianna Maiorana, Lucilla Manganozzi, Fabrizio Barbetti, Silvia Bernabei, Giorgia Gallo, Raffaella Cusmai, Stefania Caviglia, Carlo Dionisi-Vici
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Chihwa Kim, Min Jung Kwak, Sung Yoon Cho, Ah-ra Ko, Jinguen Rheey, Jeong-Yi Kwon, Yokyung Chung, Dong-Kyu Jin
Categorizing diffuse parenchymal lung disease in children
Matthias Griese, Armin Irnstetter, Meike Hengst, Helen Burmester, Felicitas Nagel, Jan Ripper, Maria Feilcke, Ingo Pawlita, Florian Gothe, Matthias Kappler, Andrea Schams, Traudl Wesselak, Daniela Rauch, Thomas Wittmann, Peter Lohse, Frank Brasch, Carolin Kröner
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Fiorella Gurrieri, Danilo Tiziano, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou
Unmet needs for healthcare and social support services in patients with Huntington’s disease: a cross-sectional population-based study
Marleen R. van Walsem, Emilie I. Howe, Kristin Iversen, Jan C. Frich, Nada Andelic
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment
Christoph Kampmann, Amandine Perrin, Michael Beck
Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms
Anthony Ellis, Janet M. Risk, Thiviyani Maruthappu, David P. Kelsell
Primary erythromelalgia: a review
Zhaoli Tang, Zhao Chen, Beisha Tang, Hong Jiang
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Tahir Atik, Asuman Koparir, Guney Bademci, Joseph Foster II, Umut Altunoglu, Gül Yesiltepe Mutlu, Sarah Bowdin, Nursel Elcioglu, Gulsen A. Tayfun, Sevinc Sahin Atik, Mustafa Ozen, Ferda Ozkinay, Yasemin Alanay, Hulya Kayserili, Steffen Thiel, Mustafa Tekin
Erratum to: Establishing medical plausibility in the context of orphan medicines designation in the European Union
Stelios Tsigkos, Segundo Mariz, Jordi Llinares, Laura Fregonese, Stiina Aarum, Frauke Naumann-Winter, Kerstin Westermark, Bruno Sepodes
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states
Philippe Joly, Olivier Guillaud, Valérie Hervieu, Alain Francina, Jean-François Mornex, Colette Chapuis-Cellier
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
Nouriya A. Al-Sannaa, Luisa Bay, Deborah S. Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon A. Jones, Sandra Obikawa Kyosen, Ana Maria Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet, Iva Ivanovska Holder
Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency
Dorottya Csuka, Nóra Veszeli, Éva Imreh, Zsuzsanna Zotter, Judit Skopál, Zoltán Prohászka, Lilian Varga, Henriette Farkas
Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin
Giampiero Palladino, Stefano Loizzo, Andrea Fortuna, Sonia Canterini, Fioretta Palombi, Robert P. Erickson, Franco Mangia, Maria Teresa Fiorenza
47 patients with FLNA associated periventricular nodular heterotopia
Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, Barbara Oehl-Jaschkowitz, Luitgard Graul-Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers-Renelt, Ana Beleza-Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Juergen Winkler, Gerhard Schuierer, Ute Hehr
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou-Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, Brigitte Chabrol, Valérie Cormier-Daire, Albert David, Bruno Eymard, Laurence Faivre, Dominique Figarella-Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israël-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, Stéphanie Mallet, Stuart MacGowan, Maeve A. McAleer, Irwin McLean, Cécile Méni, Arnold Munnich, Jean-Marie Mussini, Peter L. Nagy, Jeffrey Odel, Grainne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, Eve Puzenat, Jacinda B. Sampson, Frances Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, Sébastien Barbarot, Stéphane Bézieau
Immunosuppressive drugs and fertility
Clara Leroy, Jean-Marc Rigot, Maryse Leroy, Christine Decanter, Kristell Le Mapihan, Anne-Sophie Parent, Anne-Claire Le Guillou, Ibrahim Yakoub-Agha, Sébastien Dharancy, Christian Noel, Marie-Christine Vantyghem
Mortality-related resource utilization in the inpatient care of hypoplastic left heart syndrome
David A. Danford, Quentin Karels, Aparna Kulkarni, Aysha Hussain, Yunbin Xiao, Shelby Kutty
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Angels García-Cazorla, Cristina Boix, Bernabé Robles, Francisco Carratalá, Marisa Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez-Cerdá, Jaak Jaeken, Belén Pérez, Belén Pérez-Dueñas
Review and comparison of clinical evidence submitted to support European Medicines Agency market authorization of orphan-designated oncological treatments
Julie Winstone, Shkun Chadda, Stephen Ralston, Peter Sajosi
Rare genetic disease in China: a call to improve clinical services
M. Chopra, T. Duan
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
Sung Yoon Cho, Jeehun Lee, Ah-Ra Ko, Min Jung Kwak, Sujin Kim, Young Bae Sohn, Sung Won Park, Dong-Kyu Jin
Focusing on rare diseases in China: are we there yet?
Li Yang, Chang Su, Ashley M. Lee, Harrison X. Bai
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis
Gauthami Sudhamayee Kondagari, Jessica Louise Fletcher, Rachel Cruz, Peter Williamson, John J. Hopwood, Rosanne Maree Taylor
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
Hsiang-Ru Liaw, Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai
Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
Louise F. Porter, Roberto Gallego-Pinazo, Catherine L. Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes D. Manson, Graeme C. Black
Initial report of the osteogenesis imperfecta adult natural history initiative
Laura L. Tosi, Matthew E. Oetgen, Marianne K. Floor, Mary Beth Huber, Ann M. Kennelly, Robert J. McCarter, Melanie F. Rak, Barbara J. Simmonds, Melissa D. Simpson, Carole A. Tucker, Fergus E. McKiernan
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner, Christian Beetz
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher P. Barnett, Goknur Haliloglu, Beril Talim, Zuhal Akcoren, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary-Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly-Borri, Padma Sivadorai, Richard J.N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease
Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett, Tarekegn Geberhiwot
Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers
Alena Welters, Christian Lerch, Sebastian Kummer, Jan Marquard, Burak Salgin, Ertan Mayatepek, Thomas Meissner
Zellweger spectrum disorders: clinical overview and management approach
Femke C. C. Klouwer, Kevin Berendse, Sacha Ferdinandusse, Ronald J. A. Wanders, Marc Engelen, Bwee Tien Poll-The
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
Hsiang-Yu Lin, Chih-Kuang Chuang, Yi-Ning Su, Ming-Ren Chen, Hui-Chin Chiu, Dau-Ming Niu, Shuan-Pei Lin
Prevalence, incidence, and age at diagnosis in Marfan Syndrome
Kristian A. Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R. Østergaard, Niels H. Andersen, Claus H. Gravholt
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Chiara Vannicola, Monica Saccani, Elisabetta Magnaghi, Giulia Federica Scornavacca, Maria Paola Canevini
Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study
H. Pommerening, S. van Dullemen, M. Kieslich, R. Schubert, S. Zielen, S. Voss
Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency
Nóra Veszeli, Dorottya Csuka, Zsuzsanna Zotter, Éva Imreh, Mihály Józsi, Szabolcs Benedek, Lilian Varga, Henriette Farkas
Novel grading system for quantification of cystic macular lesions in Usher syndrome
Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said, Jose Alain Sahel
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, Pascal Perrin, Shyue-Fang Battaglia-Hsu, Bernard Herbeth, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loïc de Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Jean-Louis Guéant, Fares Namour
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency
Hirsh D. Komarow, Robert Sokolic, Michael S. Hershfield, Donald B. Kohn, Michael Young, Dean D. Metcalfe, Fabio Candotti
Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
Larry A. Abel, Mark Walterfang, Matthew J. Stainer, Elizabeth A. Bowman, Dennis Velakoulis
Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile
Maria João Pena, Manuela Ferreira Almeida, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Hulya Gokmen-Ozel, Anna Maria Lammardo, Anita MacDonald, Martine Robert, Júlio César Rocha
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Peter Burgard
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla