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Zeitschrift

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases 1/2018

Ausgabe 1/2018

Inhaltsverzeichnis ( 221 Artikel )

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

Compounded medication for patients with rare diseases

Marc Dooms, Maria Carvalho

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Jenny Downs, Jenny Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk, Helen Leonard

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study

Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm

Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando

01.12.2018 | Review | Ausgabe 1/2018 Open Access

An overview of the impact of rare disease characteristics on research methodology

Danielle Whicher, Sarah Philbin, Naomi Aronson

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR

Trevor Richter, Ghayath Janoudi, William Amegatse, Sandra Nester-Parr

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China

Zhili Jin, Yini Wang, Jingshi Wang, Jia Zhang, Lin Wu, Zhuo Gao, Wenyuan Lai, Zhao Wang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease

Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética

01.12.2018 | Research | Ausgabe 1/2018 Open Access

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

A. Pinto, M. Alfadhel, R. Akroyd, Y. Atik Altınok, S. M. Bernabei, L. Bernstein, G. Bruni, G. Caine, E. Cameron, R. Carruthers, B. Cochrane, A. Daly, F. de Boer, S. Delaunay, A. Dianin, M. Dixon, E. Drogari, S. Dubois, S. Evans, J. Gribben, G. Gugelmo, C. Heidenborg, I. Hunjan, I. L. Kok, B. Kumru, A. Liguori, D. Mayr, E. Megdad, U. Meyer, R. B. Oliveira, A. Pal, A. Pozzoli, R. Pretese, J. C. Rocha, S. Rosenbaum-Fabian, J. Serrano-Nieto, E. Sjoqvist, C. Timmer, L. White, T. van den Hurk, M. van Rijn, H. Zweers, M. Ziadlou, A. MacDonald

01.12.2018 | Research | Ausgabe 1/2018 Open Access

PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases

Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H.-Werner Mewes, Matthias Arnold, Andreas Ruepp

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in Quebec, Australia, Scotland and New Zealand

John I. McCormick, L. Diana Berescu, Nabil Tadros

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

L. Marti-Sanchez, J. D. Ortigoza-Escobar, A. Darling, M. Villaronga, H. Baide, M. Molero-Luis, M. Batllori, M. I. Vanegas, J. Muchart, L. Aquino, R. Artuch, A. Macaya, M. A. Kurian, Pérez Dueñas

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden, Bruce Korf

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete, Dan Miléa

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Functional improvements in patients with lymphangioleiomyomatosis after sirolimus: an observational study

Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian, Kai-Feng Xu

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review

Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo, Corrado Angelini

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease

Ari Zimran, Michael Wajnrajch, Betina Hernandez, Gregory M. Pastores

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

TRAPPED - an insight into two sisters’ struggle to access treatment for a rare genetic disease

Mariam Al-Attar

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Programmed Sports Therapy (PST) in People with Haemophilia (PwH) “Sports Therapy Model for Rare Diseases”

Thomas Hilberg

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir, Anette Bygum

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim, Chang-Seok Ki

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan, Matthias Griese

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial

Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi, Yushi Zhang

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

A perspective on “cure” for Rett syndrome

Angus John Clarke, Ana Paula Abdala Sheikh

01.12.2018 | Research | Ausgabe 1/2018 Open Access

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Alitretinoin reduces erythema in inherited ichthyosis

Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat, Juliette Mazereeuw-Hautier

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review

James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China

Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li, Hongfang Ding

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID

Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli, Pauline Ng

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Consensus clinical management guidelines for Niemann-Pick disease type C

Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Safety, effectiveness, and impact on quality of life of self-administration with plasma-derived nanofiltered C1 inhibitor (Berinert®) in patients with hereditary angioedema: the SABHA study

Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini, Teresa Caballero

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Fabry disease in the Spanish population: observational study with detection of 77 patients

Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro, Saida Ortolano

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

Tamás Zelei, Kata Csetneki, Zoltán Vokó, Csaba Siffel

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette Beers, Jizhong Zou, Steven Titus, Elizabeth A. Ottinger, Juan J. Marugan, Xing Xie, Wei Zheng

01.12.2018 | Research | Ausgabe 1/2018 Open Access

GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologies

Suvi Liimatainen, Jerome Honnorat, Sean J. Pittock, Andrew McKeon, Mario Manto, Jared R. Radtke, Christiane S. Hampe, T1D Exchange Biobank

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins)

Saskia Ingen-Housz-Oro, Tu-Anh Duong, Benoit Bensaid, Nathalia Bellon, Nicolas de Prost, Dévy Lu, Bénédicte Lebrun-Vignes, Julie Gueudry, Emilie Bequignon, Karim Zaghbib, Gérard Royer, Audrey Colin, Giao Do-Pham, Christine Bodemer, Nicolas Ortonne, Annick Barbaud, Laurence Fardet, Olivier Chosidow, Pierre Wolkenstein, the French National Reference Center for Toxic Bullous Dermatoses

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Ole Hensel, Ilka Schneider, Mathias Wieprecht, Torsten Kraya, Stephan Zierz

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis

Øivind J. Kanavin, Krister W. Fjermestad

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Decreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study

Catharina M. Mulders-Manders, Tim A. Kanters, Paul L. A. van Daele, Esther Hoppenreijs, G. Elizabeth Legger, Jan A. M. van Laar, Anna Simon, Leona Hakkaart-van Roijen

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Pulmonary hemosiderosis in children with Down syndrome: a national experience

Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier, Marie-Catherine Renoux, Jacques de Blic, Sophie Leyronnas, Guillaume Thouvenin, Caroline Perisson, Aimé Ravel, Annick Clement, Harriet Corvol, Nadia Nathan, for the French RespiRare® group

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Patient reported outcome measures in rare diseases: a narrative review

Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Larissa Kerecuk, James Ferguson, Graham Lipkin, Melanie Calvert

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1

Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner, Jan M. Friedman

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis

Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert, Christian F. Poets

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?

Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Adenosine deaminase deficiency: a review

Aisling M. Flinn, Andrew R. Gennery

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

European principles of inhibitor management in patients with haemophilia

P. L. F. Giangrande, C. Hermans, B. O’Mahony, P. de Kleijn, M. Bedford, A. Batorova, J. Blatný, K. Jansone, on behalf of the European Haemophilia Consortium (EHC) and the European Association for Haemophilia and Allied Disorders (EAHAD)

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Revealed preferences towards the appraisal of orphan drugs in Poland - multi criteria decision analysis

Katarzyna Kolasa, Krzysztof Miroslaw Zwolinski, Vladimir Zah, Zoltán Kaló, Tadeusz Lewandowski

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts

01.12.2018 | Review | Ausgabe 1/2018 Open Access

GNE myopathy: from clinics and genetics to pathology and research strategies

Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Individualized approach to the surgical management of fibrous dysplasia of the proximal femur

Bas C. J. Majoor, Andreas Leithner, Michiel A. J. van de Sande, Natasha M. Appelman-Dijkstra, Neveen A. T. Hamdy, P. D. Sander Dijkstra

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies

Emel Aygören-Pürsün, Markus Magerl, Andreas Maetzel, Marcus Maurer

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Naxos disease: from the origin to today

Guo-Liang Li, Ardan M. Saguner, Guy H. Fontaine

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis

Nadine Zwink, Ekkehart Jenetzky

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Elsa G. Shapiro, Chester B. Whitley, Julie B. Eisengart

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Lessons learned from IDeAl — 33 recommendations from the IDeAl-net about design and analysis of small population clinical trials

Ralf-Dieter Hilgers, Malgorzata Bogdan, Carl-Fredrik Burman, Holger Dette, Mats Karlsson, Franz König, Christoph Male, France Mentré, Geert Molenberghs, Stephen Senn

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome

Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka, Kuniaki Seyama

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Improving the analysis of composite endpoints in rare disease trials

Martina McMenamin, Anna Berglind, James M. S. Wason

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients

Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek, Ans T. van der Ploeg

01.12.2018 | Review | Ausgabe 1/2018 Open Access

A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases

Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo, Dedee F. Murrell

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Nadia Bahi-Buisson, Jeanne Amiel, Capucine Picard, Nizar Mahlaoui, Vincent Benoit, Anita Burgun, Bastien Rance

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders

Josef Finsterer, Sinda Zarrouk-Mahjoub

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Retinal and optic nerve degeneration in α-mannosidosis

Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann, Susanne Pitz

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Shuan-Pei Lin

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema

Urs C. Steiner, Lea Kölliker, Christina Weber-Chrysochoou, Peter Schmid-Grendelmeier, Elsbeth Probst, Walter A. Wuillemin, Arthur Helbling

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer’s dementia

Andreas Johnen, Matthias Pawlowski, Thomas Duning

01.12.2018 | Review | Ausgabe 1/2018 Open Access

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

Tessa van Dijk, Frank Baas, Peter G. Barth, Bwee Tien Poll-The

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis

Yuko Shimizu-Motohashi, Terumi Murakami, En Kimura, Hirofumi Komaki, Norio Watanabe

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract

Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang, Lihua Cao

01.12.2018 | Research | Ausgabe 1/2018 Open Access

How to address the challenges of evaluating treatment benefits-risks in rare diseases? A convergent mixed methods approach applied within a Merkel cell carcinoma phase 2 clinical trial

Murtuza Bharmal, Isabelle Guillemin, Alexia Marrel, Benoit Arnould, Jérémy Lambert, Meliessa Hennessy, Fatoumata Fofana

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial Hypercholesterolaemia

Dirk J. Blom, Marina Cuchel, Miranda Ager, Helen Phillips

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, Mireia Del Toro, Maria Alice Donati, Angeles García-Cazorla, María Julieta González, Celine Plisson, Vincenzo Giordano

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Increased extracellular matrix deposition during chondrogenic differentiation of dental pulp stem cells from individuals with neurofibromatosis type 1: an in vitro 2D and 3D study

Paula Nascimento Almeida, Deuilton do Nascimento Barboza, Eloá Borges Luna, Maria Clara de Macena Correia, Rhayra Braga Dias, Ana Caroline Siquara de Sousa, Maria Eugenia Leite Duarte, Maria Isabel Doria Rossi, Karin Soares Cunha

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Thymectomy in nonthymomatous myasthenia gravis - systematic review and meta-analysis

Antônio J. M. Cataneo, Gilmar Felisberto Jr., Daniele C. Cataneo

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

Salma Adham, Denis Trystram, Juliette Albuisson, Valérie Domigo, Anne Legrand, Xavier Jeunemaitre, Michael Frank

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis

Gina A. Montoya Parra, Rani H. Singh, Aysun Cetinyurek-Yavuz, Mirjam Kuhn, Anita MacDonald

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Longitudinal hearing loss in Wolfram syndrome

Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E. C. Lieu, Tamara Hershey

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Carbohydrate status in patients with phenylketonuria

María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases

Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network

01.12.2018 | Research | Ausgabe 1/2018 Open Access

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur

01.12.2018 | Research | Ausgabe 1/2018 Open Access

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang, Xue Zhang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases

Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres, Carlos Cantú-Brito

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

Nicola Longo, Roberto Zori, Melissa P. Wasserstein, Jerry Vockley, Barbara K. Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore, Janet A. Thomas

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Comprehensive genetic characteristics of dystrophinopathies in China

Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial

Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J. Boado, Igor Nestrasil, Carol Nguyen, Steven Chen, William M. Pardridge

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Molecular diagnosis of anti-laminin 332 (epiligrin) mucous membrane pemphigoid

Roxana Chiorean, Sorina Danescu, Oana Virtic, Mayson B. Mustafa, Adrian Baican, Annette Lischka, Takashi Hashimoto, Yoshinobu Kariya, Manuel Koch, Cassian Sitaru

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Challenges of palliative care in children with inborn metabolic diseases

Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Janßen, Michaela Kuhlen

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Transcriptome level analysis in Rett syndrome using human samples from different tissues

Stephen Shovlin, Daniela Tropea

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas, Francisco Dasí

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study

Livia Savarese, Maria Bova, Raffaella De Falco, Maria Domenica Guarino, Raffaele De Luca Picione, Angelica Petraroli, Riccardo Senter, Claudia Traverso, Matteo Zabotto, Andrea Zanichelli, Eugenio Zito, Maria Alessio, Mauro Cancian, Marco Cicardi, Adriana Franzese, Roberto Perricone, Gianni Marone, Paolo Valerio, Maria Francesca Freda

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Childhood hypophosphatasia: to treat or not to treat

Eric T. Rush

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Anatomy of the ventricular septal defect in congenital heart defects: a random association?

Meriem Mostefa-Kara, Lucile Houyel, Damien Bonnet

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

MicroRNAs are appropriate in mitochondrial related hearing loss? Answer to the skepticism

Arianna Di Stadio, Corrado Angelini

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Acid ceramidase deficiency: Farber disease and SMA-PME

Fabian P. S. Yu, Samuel Amintas, Thierry Levade, Jeffrey A. Medin

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study

Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain, Richard Thompson

01.12.2018 | Research | Ausgabe 1/2018 Open Access

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

Sarah F. Barclay, Casey M. Rand, Lisa Nguyen, Richard J. A. Wilson, Rachel Wevrick, William T. Gibson, N. Torben Bech-Hansen, Debra E. Weese-Mayer

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

Nicholas Bascou, Anthony DeRenzo, Michele D. Poe, Maria L. Escolar

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials

Jatinder Singh, Paramala Santosh

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Prevalence and healthcare burden of pulmonary alveolar proteinosis

Cormac McCarthy, Ruzan Avetisyan, Brenna C. Carey, Claudia Chalk, Bruce C. Trapnell

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Craniofacial and oral alterations in patients with Neurofibromatosis 1

Vivian Visnapuu, Sirkku Peltonen, Lotta Alivuotila, Risto-Pekka Happonen, Juha Peltonen

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Health-related quality of life in children with PFAPA syndrome

Claire Grimwood, Isabelle Kone-Paut, Maryam Piram, Linda Rossi-Semerano, Véronique Hentgen

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis

Nannan Gao, Tengyue Zhang, Jiadong Ji, Kai-Feng Xu, Xinlun Tian

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi, Cerebral Calcification International Study Group

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

Claire L. Shovlin, Elisabetta Buscarini, Anette D. Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini, Sophie Dupuis-Girod

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Characterization of vertigo and hearing loss in patients with Fabry disease

Maria Köping, Wafaa Shehata-Dieler, Dieter Schneider, Mario Cebulla, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen, Sebastian P. Schraven

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

Katherine Y. Liu, Jesse D. Sengillo, Gabriel Velez, Ruben Jauregui, Lynn Y. Sakai, Irene H. Maumenee, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Luca Trotta, Anna Norberg, Mervi Taskinen, Vivien Béziat, Sofie Degerman, Ulla Wartiovaara-Kautto, Hannamari Välimaa, Kirsi Jahnukainen, Jean-Laurent Casanova, Mikko Seppänen, Janna Saarela, Minna Koskenvuo, Timi Martelius

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Miglustat in Niemann-Pick disease type C patients: a review

Mercè Pineda, Mark Walterfang, Marc C. Patterson

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

Anjali B. Daniel, Vrinda Saraff, Nick J. Shaw, Robert Yates, M. Zulf Mughal, Raja Padidela

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study)

Belén Ruiz-Antoran, Aranzazu Sancho-López, Rosario Cazorla-Calleja, Luis Fernando López-Pájaro, Ágata Leiva, Gema Iglesias-Escalera, Maria Esperanza Marín-Serrano, Marta Rincón-Ortega, Julián Lara-Herguedas, Teresa Rossignoli-Palomeque, Sara Valiente-Rodríguez, Javier González-Marques, Enriqueta Román-Riechmann, Cristina Avendaño-Solá

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Dentinogenesis imperfecta type II in Swedish children and adolescents

K. Andersson, B. Malmgren, E. Åström, G. Dahllöf

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

Michel van Weeghel, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse, Annet M. Bosch

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

Annie Ting Gee Chiu, Claudia Ching Yan Chung, Wilfred Hing Sang Wong, So Lun Lee, Brian Hon Yin Chung

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA

Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Can untreated PKU patients escape from intellectual disability? A systematic review

Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

01.12.2018 | Review | Ausgabe 1/2018 Open Access

A systematic review of cognitive functioning in early treated adults with phenylketonuria

Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson, Louise Dye

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Manual and educational therapy in the treatment of hemophilic arthropathy of the elbow: a randomized pilot study

Rubén Cuesta-Barriuso, Antonia Gómez-Conesa, José-Antonio López-Pina

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease

Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory, Juan J. Marugan, Wei Zheng

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients

Hiroaki Iwata, Artem Vorobyev, Hiroshi Koga, Andreas Recke, Detlef Zillikens, Catherine Prost-Squarcioni, Norito Ishii, Takashi Hashimoto, Ralf J. Ludwig

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Rare disease registries: potential applications towards impact on development of new drug treatments

Marijke C. Jansen-van der Weide, Charlotte M. W. Gaasterland, Kit C. B. Roes, Caridad Pontes, Roser Vives, Arantxa Sancho, Stavros Nikolakopoulos, Eric Vermeulen, Johanna H. van der Lee

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The patient journey to diagnosis and treatment of autoinflammatory diseases

Jonathan S. Hausmann, Kathleen G. Lomax, Ari Shapiro, Karen Durrant

01.12.2018 | Research | Ausgabe 1/2018 Open Access

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J. Chris Kingswood, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta

Brigitte Mueller, Raoul Engelbert, Frances Baratta-Ziska, Bart Bartels, Nicole Blanc, Evelise Brizola, Paolo Fraschini, Claire Hill, Caroline Marr, Lisa Mills, Kathleen Montpetit, Verity Pacey, Miguel Rodriguez Molina, Marleen Schuuring, Chantal Verhille, Olga de Vries, Eric Hiu Kwong Yeung, Oliver Semler

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease

Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed, Atul Mehta

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A continuous repetitive task to detect fatigability in spinal muscular atrophy

Marloes Stam, Renske I. Wadman, Bart Bartels, Maureen Leeuw, Henk-Jan Westeneng, Camiel A. Wijngaarde, Leonard H. van den Berg, W. Ludo van der Pol

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Description of 22 new alpha-1 antitrypsin genetic variants

Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Burden of albinism: development and validation of a burden assessment tool

Fanny Morice-Picard, Charles Taïeb, Aurelie Marti, Antoine Gliksohn, Mohammed Bennani, Christine Bodemer, Khaled Ezzedine, Filière Maladies Rares en Dermatologie: FIMARAD

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Systemic retinoids for treatment of recalcitrant IgA pemphigus

Franziska Schauer, Johannes Steffen Kern, Dimitra Kiritsi

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran, Eileen P. Treacy

01.12.2018 | Research | Ausgabe 1/2018 Open Access

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation

Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Efficacy of sirolimus for the prevention of recurrent pneumothorax in patients with lymphangioleiomyomatosis: a case series

Li Zhou, Ruoyun Ouyang, Hong Luo, Siying Ren, Ping Chen, Yating Peng, Ting Liu, Guiqian Liu

01.12.2018 | Research | Ausgabe 1/2018 Open Access

High hepatic macrophage activation and low liver function in stable Wilson patients - a Danish cross-sectional study

Jessica Björklund, Tea Lund Laursen, Thomas Damgaard Sandahl, Holger Jon Møller, Hendrik Vilstrup, Peter Ott, Henning Grønbæk

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli, the Italian CMD Network

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?

Malte Lenders, Boris Schmitz, Stefan-Martin Brand, Eva Brand

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Cost-effectiveness analysis of lumacaftor and ivacaftor combination for the treatment of patients with cystic fibrosis in the United States

Dolly Sharma, Shan Xing, Yu-Ting Hung, Rachel N. Caskey, Maria L. Dowell, Daniel R. Touchette

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

Ania C. Muntau, Marcel du Moulin, Francois Feillet

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco, Davide Pareyson

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”

Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme

Alice Bessey, James B Chilcott, Joanna Leaviss, Anthea Sutton

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Treatment patterns and healthcare resource utilization among patients with hereditary angioedema in the United States

Marc A Riedl, Aleena Banerji, Michael E Manning, Earl Burrell, Namita Joshi, Dipen Patel, Thomas Machnig, Ming-Hui Tai, Douglas J Watson

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Estrogen is involved in hemangioma regression associated with mast cells

Fang Hou, Yuemeng Dai, Chun-Yang Fan, James Y. Suen, Gresham T. Richter

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Comorbid connective tissue diseases and autoantibodies in lymphangioleiomyomatosis: a retrospective cohort study

Shinji Futami, Toru Arai, Masaki Hirose, Chikatoshi Sugimoto, Naoya Ikegami, Masanori Akira, Takahiko Kasai, Masanori Kitaichi, Seiji Hayashi, Yoshikazu Inoue

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Investigating the landscape of US orphan product approvals

Kathleen L. Miller, Michael Lanthier

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The European challenges of funding orphan medicinal products

Márta Szegedi, Tamás Zelei, Francis Arickx, Anna Bucsics, Emanuelle Cohn-Zanchetta, Jurij Fürst, Maria Kamusheva, Pawel Kawalec, Guenka Petrova, Juraj Slaby, Ewa Stawowczyk, Milan Vocelka, Ingrid Zechmeister-Koss, Zoltán Kaló, Mária Judit Molnár

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

Dawn Adams, Richard P Hastings, Clair Alston-Knox, Rina Cianfaglione, Kate Eden, David Felce, Gemma Griffith, Jo Moss, Chris Stinton, Chris Oliver

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Recent advances in methodology for clinical trials in small populations: the InSPiRe project

Tim Friede, Martin Posch, Sarah Zohar, Corinne Alberti, Norbert Benda, Emmanuelle Comets, Simon Day, Alex Dmitrienko, Alexandra Graf, Burak Kürsad Günhan, Siew Wan Hee, Frederike Lentz, Jason Madan, Frank Miller, Thomas Ondra, Michael Pearce, Christian Röver, Artemis Toumazi, Steffen Unkel, Moreno Ursino, Gernot Wassmer, Nigel Stallard

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study

Mohammadamin Najirad, Mang Shin Ma, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Jean-Marc Retrouvey, Shahrokh Esfandiari, Members of the BBD

01.12.2018 | Research | Ausgabe 1/2018 Open Access

White matter microstructural damage in early treated phenylketonuric patients

María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch, Jaume Campistol

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Follow-up analysis of voice quality in patients with late-onset Pompe disease

Krzysztof Szklanny, Anna Tylki-Szymańska

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

Emmanuel Gonzales, Lorenza Matarazzo, Stéphanie Franchi-Abella, Alain Dabadie, Joseph Cohen, Dalila Habes, Sophie Hillaire, Catherine Guettier, Anne-Marie Taburet, Anne Myara, Emmanuel Jacquemin

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula, Laurence M. Boon

01.12.2018 | Research | Ausgabe 1/2018 Open Access

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)

Kristen D Brantley, Teresa D Douglas, Rani H Singh

01.12.2018 | Letter to the Editor | Ausgabe 1/2018 Open Access

Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex

Michael Ablinger, Thomas K. Felder, Monika Wimmer, Roland Zauner, Peter Hofbauer, Thomas Lettner, Martin Wolkersdorfer, Florian B. Lagler, Anja Diem, Johann W. Bauer, Verena Wally

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Tim W. Rattay, Jennifer Just, Benjamin Röben, Holger Hengel, Rebecca Schüle, Matthis Synofzik, Anne S. Söhn, Natalie Winter, Nele Dammeier, Ludger Schöls, Alexander Grimm

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

Recommendations for the design of small population clinical trials

Simon Day, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Ralf-Dieter Hilgers, Ilan Irony, Kristina Larsson, Kit CB Roes, Nigel Stallard

01.12.2018 | Position statement | Ausgabe 1/2018 Open Access

From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research

Petra Kaufmann, Anne R. Pariser, Christopher Austin

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany

Antonia Reimer, Leena Bruckner-Tuderman, Hagen Ott

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Inhibitor clinical burden of disease: a comparative analysis of the CHESS data

Abiola O. Oladapo, Mei Lu, Shaun Walsh, Jamie O’Hara, Teresa L. Kauf

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Federating patients identities: the case of rare diseases

Meriem Maaroufi, Paul Landais, Claude Messiaen, Marie-Christine Jaulent, Rémy Choquet

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Applicability and added value of novel methods to improve drug development in rare diseases

Marian Mitroiu, Katrien Oude Rengerink, Caridad Pontes, Aranzazu Sancho, Roser Vives, Stella Pesiou, Juan Manuel Fontanet, Ferran Torres, Stavros Nikolakopoulos, Konstantinos Pateras, Gerd Rosenkranz, Martin Posch, Susanne Urach, Robin Ristl, Armin Koch, Spineli Loukia, Johanna H. van der Lee, Kit C. B. Roes

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Irina Odnoletkova, Gerhard Kindle, Isabella Quinti, Bodo Grimbacher, Viviane Knerr, Benjamin Gathmann, Stephan Ehl, Nizar Mahlaoui, Philippe Van Wilder, Kris Bogaerts, Esther de Vries, in collaboration with the Plasma Protein Therapeutics Association (PPTA) Taskforce

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Impact of biobanks on research outcomes in rare diseases: a systematic review

Monique Garcia, Jenny Downs, Alyce Russell, Wei Wang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Fear of disease progression in carriers of the m.3243A > G mutation

José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen, Christianne Verhaak

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Efficacy and safety of low-dose Sirolimus in Lymphangioleiomyomatosis

Hee-Young Yoon, Jung Jin Hwang, Dong Soon Kim, Jin Woo Song

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients

Francesca Marini, Francesca Giusti, Maria Luisa Brandi

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties

Caridad Pontes, Juan Manuel Fontanet, Roser Vives, Aranzazu Sancho, Mònica Gómez-Valent, José Ríos, Rosa Morros, Jorge Martinalbo, Martin Posch, Armin Koch, Kit Roes, Katrien Oude Rengerink, Josep Torrent-Farnell, Ferran Torres

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia – high rate of HPV positivity

Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)

Takeya Adachi, Noriaki Imanishi, Yasushi Ogawa, Yoshihiko Furusawa, Yoshihiko Izumida, Yoko Izumi, Makoto Suematsu

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur, Michèle Mayer

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015

Bruce Cohen, Cristy Balcells, Brian Hotchkiss, Kavita Aggarwal, Amel Karaa

01.12.2018 | Research | Ausgabe 1/2018 Open Access

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Immune cell phenotype and functional defects in Netherton syndrome

Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi, Annamari Ranki

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Oncologic orphan drugs approved in the EU – do clinical trial data correspond with real-world effectiveness?

Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied, Violeta Stoyanova-Beninska

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis

Jason L. Jia, Shiyi Chen, Vishalini Sivarajah, Derek Stephens, Miguel A. Cortez

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature

Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu, Min Zhu

01.12.2018 | Research | Ausgabe 1/2018 Open Access

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, Nicola Longo

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Determining the value contribution of selexipag for the treatment of pulmonary arterial hypertension (PAH) in Spain using reflective multi-criteria decision analysis (MCDA)

Alberto Jiménez, Arantza Ais, Amélie Beaudet, Alicia Gil

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment

Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, Maciej Robert Krawczynski

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Air travel and incidence of pneumothorax in lymphangioleiomyomatosis

Cynthia Gonano, Jérôme Pasquier, Cécile Daccord, Simon R. Johnson, Sergio Harari, Violette Leclerc, Lucy Falconer, Eleonora Miano, Jean-François Cordier, Vincent Cottin, Romain Lazor

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Comorbidity among HHT patients and their controls in a 20 years follow-up period

Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases

Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu, Xue Zhang

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy

Leslie Amass, Huihua Li, Balarama K. Gundapaneni, Jeffrey H. Schwartz, Denis J. Keohane

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin, Jeng-Daw Tsai

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”

R. Bertalan, A. Lucas-Herald, Z. Kolesinska, M. Berra, Martine Cools, A. Balsamo, O. Hiort

01.12.2018 | Review | Ausgabe 1/2018 Open Access

Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing’s syndrome

Naomi Knoble, Gabrielle Nayroles, Cherry Cheng, Benoit Arnould

01.12.2018 | Research | Ausgabe 1/2018 Open Access

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism

Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow, Reinhard W. Holl

01.12.2018 | Research | Ausgabe 1/2018 Open Access

Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? –a single-center cross-sectional study

Heidi Arponen, Adel Bachour, Leif Bäck, Helena Valta, Antti Mäkitie, Janna Waltimo-Sirén, Outi Mäkitie

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