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Orphanet Journal of Rare Diseases

Ausgabe 1/2015

Inhalt (163 Artikel)

Open Access Research

Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension

Guillermo Pousada, Adolfo Baloira, Diana Valverde

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Letter to the Editor

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

Open Access Research

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

Open Access Research

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

Open Access Letter to the Editor

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

Open Access Research

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

Open Access Research

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

Open Access Review

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

Open Access Review

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Letter to the Editor

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

Open Access Research

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

Open Access Research

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

Open Access Review

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi-Vici

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Review

Olmsted syndrome: clinical, molecular and therapeutic aspects

Sabine Duchatelet, Alain Hovnanian

Open Access Research

Familial Mediterranean fever without MEFV mutations: a case–control study

Ilan Ben-Zvi, Corinne Herskovizh, Olga Kukuy, Yonatan Kassel, Chagai Grossman, Avi Livneh

Open Access Research

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

Open Access Reviewer acknowledgement

Reviewer acknowledgement 2015

Ségolène Aymé

Open Access Research

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

Open Access Review

Progressive hemifacial atrophy: a review

Stanislav N Tolkachjov, Nirav G Patel, Megha M Tollefson

Open Access Research

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

Open Access Research

Innovation by patients with rare diseases and chronic needs

Pedro Oliveira, Leid Zejnilovic, Helena Canhão, Eric von Hippel

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Position statement

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

Open Access Research

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

Open Access Review

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

Open Access Research

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

Open Access Position statement

Principles for consistent value assessment and sustainable funding of orphan drugs in Europe

Laura Gutierrez, Julien Patris, Adam Hutchings, Warren Cowell

Open Access Research

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

Open Access Letter to the Editor

Drug repositioning can accelerate discovery of pharmacological chaperones

Bruno Hay Mele, Valentina Citro, Giuseppina Andreotti, Maria Vittoria Cubellis

Open Access Research

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

Open Access Research

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

Open Access Review

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Review

Idiopathic non-cirrhotic portal hypertension: a review

Jeoffrey NL Schouten, Joanne Verheij, Susana Seijo

Open Access Research

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

Open Access Letter to the Editor

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

Open Access Research

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

Open Access Letter to the Editor

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young

Open Access Research

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

Open Access Review

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

Open Access Letter to the Editor

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

Open Access Research

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

Open Access Letter to the Editor

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

Open Access Review

Quality of life in patients with Fabry disease: a systematic review of the literature

Maarten Arends, Carla E. M. Hollak, Marieke Biegstraaten

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Review

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Review

Idiopathic (primary) achalasia: a review

Dhyanesh A. Patel, Hannah P. Kim, Jerry S. Zifodya, Michael F. Vaezi

Open Access Research

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

Open Access Research

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

Open Access Review

The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review

Y. Schuller, C. E. M. Hollak, M. Biegstraaten

Open Access Review

Malignant hyperthermia: a review

Henry Rosenberg, Neil Pollock, Anja Schiemann, Terasa Bulger, Kathryn Stowell

Open Access Research

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

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EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

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Open Access Review

Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitis

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Chana I.C. Chin, Shirleen Loloyan Kohn, Thomas G. Keens, Monique F. Margetis, Roberta M. Kato

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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

Open Access Research

Compassionate use of orphan drugs

Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox, Jonathan C. P. Roos

Open Access Research

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

Open Access Research

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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

Open Access Letter to the Editor

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

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Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara Sarasua, Walter E. Kaufmann

Open Access Research

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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

Open Access Review

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Ashish R. Pinnapureddy, Cherie Stayner, John McEwan, Olivia Baddeley, John Forman, Michael R. Eccles

Open Access Research

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Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge, Chantal ME Tallaksen

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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

Open Access Research

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

Open Access Position statement

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Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène de Leersnyder, Patricia Franco, Vincent Des Portes, Patrick Edery, Caroline Demily

Open Access Research

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

Open Access Research

Self-administered version of the Fabry-associated pain questionnaire for adult patients

Barbara Magg, Christoph Riegler, Silke Wiedmann, Peter Heuschmann, Claudia Sommer, Nurcan Üçeyler

Open Access Review

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

Open Access Review

Ichthyosis with confetti: clinics, molecular genetics and management

Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia, Giovanna Zambruno

Open Access Review

Paediatric Chordomas

Kévin Beccaria, Christian Sainte-Rose, Michel Zerah, Stéphanie Puget

Open Access Research

Genital ulcer severity score and genital health quality of life in Behçet’s disease

Amal Senusi, Noha Seoudi, Lesley Ann Bergmeier, Farida Fortune

Open Access Research

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

Open Access Erratum

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Research

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

Open Access Review

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms

Anthony Ellis, Janet M. Risk, Thiviyani Maruthappu, David P. Kelsell

Open Access Review

Primary erythromelalgia: a review

Zhaoli Tang, Zhao Chen, Beisha Tang, Hong Jiang

Open Access Research

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

Open Access Erratum

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

Open Access Research

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

Open Access Research

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

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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

Open Access Research

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

Open Access Research

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

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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

Open Access Review

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

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David A. Danford, Quentin Karels, Aparna Kulkarni, Aysha Hussain, Yunbin Xiao, Shelby Kutty

Open Access Research

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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

Open Access Letter to the Editor

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M. Chopra, T. Duan

Open Access Research

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

Open Access Letter to the Editor

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Li Yang, Chang Su, Ashley M. Lee, Harrison X. Bai

Open Access Research

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

Open Access Research

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

Open Access Research

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

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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

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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

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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

Open Access Research

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

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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

Open Access Review

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Femke C. C. Klouwer, Kevin Berendse, Sacha Ferdinandusse, Ronald J. A. Wanders, Marc Engelen, Bwee Tien Poll-The

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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

Open Access Research

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

Open Access Research

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

Open Access Research

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

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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

Open Access Research

Novel grading system for quantification of cystic macular lesions in Usher syndrome

Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said, Jose Alain Sahel

Open Access Research

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

Open Access Letter to the Editor

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

Open Access Research

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

Open Access Letter to the Editor

Rare diseases and orphan drugs: 500 years ago

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Open Access Research

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

Open Access Research

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

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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