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Zeitschrift

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases 1/2017

Ausgabe 1/2017

Inhaltsverzeichnis ( 188 Artikel )

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients’ health needs?

R. Rodriguez-Monguio, T. Spargo, E. Seoane-Vazquez

01.12.2017 | Research | Ausgabe 1/2017 Open Access

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

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

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Moebius sequence –a multidisciplinary clinical approach

Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency

Zsuzsanna Zotter, Zsolt Nagy, Attila Patócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi, Henriette Farkas

01.12.2017 | Review | Ausgabe 1/2017 Open Access

FOXN1 deficient nude severe combined immunodeficiency

Ioanna A. Rota, Fatima Dhalla

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan, Melissa Mae P. Baluyot, Cynthia P. Cordero, Catherine Lynn T. Silao

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules

Luciana Kase Tanno, F. Estelle R. Simons, Isabella Annesi-Maesano, Moises A. Calderon, Ségolène Aymé, Pascal Demoly, on behalf of the Joint Allergy Academies

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects

N. Guérard, O. Morand, J. Dingemanse

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs

C. Schey, P. F. M. Krabbe, M. J. Postma, M. P. Connolly

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang Tso Lee, Manju A. Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Challenges in orphan drug development and regulatory policy in China

Alice Cheng, Zhi Xie

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Bibliometric analysis of literature on toxic epidermal necrolysis and Stevens-Johnson syndrome: 1940 – 2015

Waleed M. Sweileh

01.12.2017 | Research | Ausgabe 1/2017 Open Access

The burden of amyloid light chain amyloidosis on health-related quality of life

Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie, Michelle K. White

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein, Helen Leonard

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Evolving prevalence of haematological malignancies in orphan designation procedures in the European Union

Benedetta Polsinelli, Stelios Tsigkos, Frauke Naumann-Winter, Segundo Mariz, Bruno Sepodes

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)

Valérie Attali, Christian Straus, Michel Pottier, Marie-Annick Buzare, Capucine Morélot-Panzini, Isabelle Arnulf, Thomas Similowski

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Diseases associated with calcium-sensing receptor

C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou, M. C. Vantyghem

01.12.2017 | Research | Ausgabe 1/2017 Open Access

High prevalence of autoimmune disease in the rare inflammatory bone disorder sternocostoclavicular hyperostosis: survey of a Dutch cohort

Pieter A. Valkema, Clare H. Luymes, Janneke E. Witteveen, Saskia le Cessie, Natasha M. Appelman-Dijkstra, Pancras C. W. Hogendoorn, Neveen A. T. Hamdy

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

Roberta Battini, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud, Fanny Mochel

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease

Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia, José A. Sánchez-Alcázar

01.12.2017 | Research | Ausgabe 1/2017 Open Access

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams, Maria Bitner-Glindzicz

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Simon A. Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang, Vassili Valayannopoulos

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort

Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Evaluation of a web-based registry of inherited bleeding disorders: a descriptive study of the Brazilian experience with HEMOVIDAweb Coagulopatias

Suely Meireles Rezende, Silvia Helena Lacerda Rodrigues, Kelly Neves Pinheiro Brito, Diego Lima Quintino da Silva, Marcos Lázaro Santo, Bárbara de Jesus Simões, Guilherme Genovez, Helder Teixeira Melo, João Paulo Baccara Araújo, Danila Augusta Accioly Varella Barca, on behalf of the HEMOVIDAweb Coagulopatias Study Group

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek, Maria Blomqvist

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

“It’s not all in my head!” - The complex relationship between rare diseases and mental health problems

Rebecca Nunn

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia

S. C. Grünert, I. Bodi, K. E. Odening

01.12.2017 | Research | Ausgabe 1/2017 Open Access

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Early disease progression of Hurler syndrome

Bridget T. Kiely, Jennifer L. Kohler, Hannah Y. Coletti, Michele D. Poe, Maria L. Escolar

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)

Nafissa Mamoudjy, Hélène Maurey, Isabelle Marie, Isabelle Koné-Paut, Kumaran Deiva

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Non-optic glioma in adults and children with neurofibromatosis 1

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

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide

Mark Davies, Anurag Saxena, John C. Kingswood

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Are products with an orphan designation for oncology indications different from products for other rare indications? A retrospective analysis of European orphan designations granted between 2002-2012

Kim Pauwels, Isabelle Huys, Minne Casteels, Kristina Larsson, Caroline Voltz, Karri Penttila, Thomas Morel, Steven Simoens

01.12.2017 | Research | Ausgabe 1/2017 Open Access

The RENAPE observational registry: rationale and framework of the rare peritoneal tumors French patient registry

L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset, F. N. Gilly, on behalf of the RENAPE Network

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble, Linda H. Cripe

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Yellow nail syndrome: a review

Stéphane Vignes, Robert Baran

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Time to diagnosis in juvenile idiopathic arthritis: a french perspective

Laura Aoust, Linda Rossi-Semerano, Isabelle Koné-Paut, Perrine Dusser

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov

Siew Wan Hee, Adrian Willis, Catrin Tudur Smith, Simon Day, Frank Miller, Jason Madan, Martin Posch, Sarah Zohar, Nigel Stallard

01.12.2017 | Research | Ausgabe 1/2017 Open Access

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

Martje E. van Egmond, Amerins Weijenberg, Margreet E. van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A. J. Tijssen, Oebele F. Brouwer, Tom J. de Koning

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence

Christian F. Poets, Christoph Maas, Wolfgang Buchenau, Joerg Arand, Anne Vierzig, Bert Braumann, Silvia Müller-Hagedorn

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H. Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S. Lotz-Havla, Alain Munafo, Diane R. Mould, Flavie Moreau-Stucker, Daniela Rogoff

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy

Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips

01.12.2017 | Research | Ausgabe 1/2017 Open Access

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome

Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K. L. Phoon, Jeanne F. James, Alexander V. Glukhov, Sabzali Javadov, Frédéric M. Vaz, John L. Jefferies, Arnold W. Strauss, Zaza Khuchua

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)

Lieven Annemans, Ségolène Aymé, Yann Le Cam, Karen Facey, Penilla Gunther, Elena Nicod, Michele Reni, Jean-Louis Roux, Michael Schlander, David Taylor, Carlo Tomino, Josep Torrent-Farnell, Sheela Upadhyaya, Adam Hutchings, Lugdivine Le Dez

01.12.2017 | Review | Ausgabe 1/2017 Open Access

mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders

David N. Franz, Jamie K. Capal

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T. Kissel, Shyam C. Madathil, David Orlikowski, Michael I. Polkey, Mark Roberts, Harm A. W. M. Tiddens, Peter Young

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11)

Luciana Kase Tanno, Robert J. G. Chalmers, Moises A. Calderon, Ségolène Aymé, Pascal Demoly, on behalf the Joint Allergy Academies

01.12.2017 | Review | Ausgabe 1/2017 Open Access

A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever

Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

Anne Aabom, Klaus E. Andersen, Christina Fagerberg, Niels Fisker, Marianne A. Jakobsen, Anette Bygum

01.12.2017 | Research | Ausgabe 1/2017 Open Access

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie, S.F. Ahmed

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C. Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A. Dwyer, COST Action BM1105

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu, Shunying Zhao

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Health technology assessment of new drugs for rare disorders in Canada: impact of disease prevalence and cost

Nigel S. B. Rawson

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants

Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan, Claire L. Shovlin

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery

Binbin Chen, Russ B. Altman

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction

Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang, Wei Cai

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Review of 11 national policies for rare diseases in the context of key patient needs

Safiyya Dharssi, Durhane Wong-Rieger, Matthew Harold, Sharon Terry

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen

Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi, Adriana Ceci

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Xeroderma pigmentosum-Cockayne syndrome complex

Valerie Natale, Hayley Raquer

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Cardiac pathology in spinal muscular atrophy: a systematic review

C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg, W. L. van der Pol

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott, APSU Rare Diseases Impacts on Families Study group

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient

Indraneel Banerjee, Diva De Leon, Mark J. Dunne

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Rebecca C. Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R. Hooper, Vandana Shashi, Undiagnosed Diseases Network

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

Graves’ orbitopathy as a rare disease in Europe: a European Group on Graves’ Orbitopathy (EUGOGO) position statement

P. Perros, L. Hegedüs, L. Bartalena, C. Marcocci, G. J. Kahaly, L. Baldeschi, M. Salvi, J. H. Lazarus, A. Eckstein, S. Pitz, K. Boboridis, P. Anagnostis, G. Ayvaz, A. Boschi, T. H. Brix, N. Currò, O. Konuk, M. Marinò, A. L. Mitchell, B. Stankovic, F. B. Törüner, G. von Arx, M. Zarković, W. M. Wiersinga

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Pulmonary hypertension in lymphangioleiomyomatosis: prevalence, severity and the role of carbon monoxide diffusion capacity as a screening method

Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza, Carlos R. R. Carvalho

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Determinants of orphan drugs prices in France: a regression analysis

Daria Korchagina, Aurelie Millier, Anne-Lise Vataire, Samuel Aballea, Bruno Falissard, Mondher Toumi

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy

Michael G. Smith, Julie Royer, Joshua Mann, Suzanne McDermott, Rodolfo Valdez

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya

01.12.2017 | Review | Ausgabe 1/2017 Open Access

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review

S. Ryder, R. M. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, M. Jain, J. Kleijnen

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Determinants of impaired quality of life in patients with fibrous dysplasia

Bas C. J. Majoor, Cornelie D. Andela, Jens Bruggemann, Michiel A. J. van de Sande, Ad A. Kaptein, Neveen A. T. Hamdy, P. D. Sander Dijkstra, Natasha M. Appelman-Dijkstra

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic center

Thomas Ness, Daniel Boehringer, Sonja Heinzelmann

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A. H. Whiteman

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Initiating an undiagnosed diseases program in the Western Australian public health system

Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Pseudoxanthoma elasticum

Dominique P. Germain

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Probable DRESS syndrome induced by IL-1 inhibitors

L. Polivka, J. S. Diana, A. Soria, C. Bodemer, P. Quartier, S. Fraitag, B. Bader-Meunier

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis

Stephanie S. Weinreich, Charlotte Vrinten, Marja R. Kuijpers, Alexander F. Lipka, Kirsten J. M. Schimmel, Erik W. van Zwet, Christine Gispen-de Wied, Yechiel A. Hekster, Jan J. G. M. Verschuuren, Martina C. Cornel

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini, The Italian NLSD Group

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen, Jan Smeitink

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia

M. M. Serra, C. H. Besada, A. Cabana Cal, A. Saenz, C. V. Stefani, D. Bauso, A. B. Golimstok, J. C. Bandi, D. H. Giunta, C. M. Elizondo

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Thalassemias in South Asia: clinical lessons learnt from Bangladesh

Mohammad Sorowar Hossain, Enayetur Raheem, Tanvira Afroze Sultana, Shameema Ferdous, Nusrat Nahar, Sazia Islam, Mohammad Arifuzzaman, Mohammad Abdur Razzaque, Rabiul Alam, Sonia Aziz, Hazera Khatun, Abdur Rahim, Manzur Morshed

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Vinblastine chemotherapy in adult patients with langerhans cell histiocytosis: a multicenter retrospective study

Abdellatif Tazi, Gwenaël Lorillon, Julien Haroche, Antoine Neel, Stéphane Dominique, Achille Aouba, Jean-David Bouaziz, Constance de Margerie-Melon, Emmanuelle Bugnet, Vincent Cottin, Thibault Comont, Christian Lavigne, Jean-Emmanuel Kahn, Jean Donadieu, Sylvie Chevret

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, Hannah Collins, Lindsey Rigby, Mars Skae, Raja Padidela, Stewart Rust, Mark Dunne, Karen Cosgrove, Indraneel Banerjee, Jacqueline Nicholson

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma

Quan Jiang, Han-Xing Tong, Ying-Yong Hou, Yong Zhang, Jing-Lei Li, Yu-Hong Zhou, Jing Xu, Jiong-Yuan Wang, Wei-Qi Lu

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Whipple’s disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure

Cornelia Glaser, Siegbert Rieg, Thorsten Wiech, Christine Scholz, Dominique Endres, Oliver Stich, Peter Hasselblatt, Walter Geißdörfer, Christian Bogdan, Annerose Serr, Georg Häcker, Reinhard E. Voll, Jens Thiel, Nils Venhoff

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

Cara A. Timpani, Alan Hayes, Emma Rybalka

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

PIGO deficiency: palmoplantar keratoderma and novel mutations

Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen Freson, NIHR BioResource

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

A plea to provide best evidence in trials under sample-size restrictions: the example of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients

Florian Lasch, Kristina Weber, Mwe Mwe Chao, Armin Koch

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity

Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever

Serdal Ugurlu, Aysa Hacioglu, Yasaman Adibnia, Vedat Hamuryudan, Huri Ozdogan

01.12.2017 | Research | Ausgabe 1/2017 Open Access

The cost of severe haemophilia in Europe: the CHESS study

Jamie O’Hara, David Hughes, Charlotte Camp, Tom Burke, Liz Carroll, Daniel-Anibal Garcia Diego

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital

Francesca De Lorenzo, Marina Macchiaiolo, Carla Maria Carlevaris, Andrea Bartuli

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism

Heike Corda, Sebastian Kummer, Alena Welters, Norbert Teig, Dirk Klee, Ertan Mayatepek, Thomas Meissner

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

International physician survey on management of FOP: a modified Delphi study

Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo, Frederick S. Kaplan

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Open issues in Mucopolysaccharidosis type I-Hurler

Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders

Kyeongsoon Kim, Hynda K. Kleinman, Hahn-Jun Lee, Kalipada Pahan

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Do investors value the FDA orphan drug designation?

Kathleen L. Miller

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Prenatal brain disruption in isolated sulfite oxidase deficiency

Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung’s disease in newborns – a nationwide cohort study

Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper, Maithé Tauber

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw, Emmanuelle Bourrat, Annabel Maruani, Stéphanie Mallet, Claire Abasq, Alice Phan, Pierre Vabres, Ludovic Martin, Christine Bodemer, Sylvie Lagrange, Jean-Philippe Lacour, the Research Group of the French Society of Pediatric Dermatology

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics

Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding-Byth, Kym M. Boycott, Care4Rare Canada Consortium

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

Virginia Albiñana, Rosa María Jiménez Escribano, Isabel Soler, Luis Rodríguez Padial, Lucia Recio-Poveda, Karina Villar Gómez de las Heras, Luisa María Botella

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

Geneviève Baujat, Rémy Choquet, Stéphane Bouée, Viviane Jeanbat, Laurène Courouve, Amélie Ruel, Caroline Michot, Kim-Hanh Le Quan Sang, David Lapidus, Claude Messiaen, Paul Landais, Valérie Cormier-Daire

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Li Ou, Michael J. Przybilla, Chester B. Whitley

01.12.2017 | Research | Ausgabe 1/2017 Open Access

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study

Dieter Benninghoven, Denise Hamann, Yskert von Kodolitsch, Meike Rybczynski, Julia Lechinger, Friedrich Schroeder, Marina Vogler, Eike Hoberg

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology, demographics and risk factors

Linda O. Okafor, Peter Hewins, Philip I. Murray, Alastair K. Denniston

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy

Katherine Boudreault, Sally Justus, Jesse D. Sengillo, Kaspar Schuerch, Winston Lee, Thiago Cabral, Stephen H. Tsang

01.12.2017 | Review | Ausgabe 1/2017 Open Access

An update on the use of biologic therapies in the management of uveitis in Behçet’s disease: a comprehensive review

Thomas W. McNally, Erika M. Damato, Philip I. Murray, Alastair K. Denniston, Robert J. Barry

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency

Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H. Singh

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience

Vishal Saddi, Sean Beggs, Bruce Bennetts, Joanne Harrison, Neil Hime, Nitin Kapur, Jill Lipsett, Lawrence M. Nogee, Amy Phu, Sadasivam Suresh, André Schultz, Hiran Selvadurai, Stephanie Sherrard, Roxanne Strachan, Julian Vyas, Yvonne Zurynski, Adam Jaffé

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

Kathryn R. Napier, Megan Tones, Chloe Simons, Helen Heussler, Adam A. Hunter, Meagan Cross, Matthew I. Bellgard

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, David Carlos Shigueoka, Sergio Aron Ajzen, Cristiane Kochi, Fabíola Isabel Suano-Souza, Rosangela da Silva, Beatriz T. Costa-Carvalho, Roseli O. S. Sarni

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

European Reference networks for rare diseases: what is the conceptual framework?

Véronique Héon-Klin

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective

A. Crucean, A. Alqahtani, D. J. Barron, W. J. Brawn, R. V. Richardson, J. O’Sullivan, R. H. Anderson, D. J. Henderson, B. Chaudhry

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Constipation in adults with neurofibromatosis type 1

Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov, Annette Haagerup

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

Critical appraisal of arguments for the delayed-start design proposed as alternative to the parallel-group randomized clinical trial design in the field of rare disease

Loukia M. Spineli, Eva Jenz, Anika Großhennig, Armin Koch

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

Julio López-Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Eduardo Tizzano, Mark Sefton, Juan Oliva-Moreno

01.12.2017 | Research | Ausgabe 1/2017 Open Access

What can the CF registry tell us about rare CFTR-mutations? A Belgian study

E. De Wachter, M. Thomas, S. S. Wanyama, S. Seneca, A. Malfroot

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Points to consider: efficacy and safety evaluations in the clinical development of ultra-orphan drugs

Kojiro Maeda, Masayuki Kaneko, Mamoru Narukawa, Teruyo Arato

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis

Franziska Peter, Sebastian Rost, Arndt Rolfs, Moritz J. Frech

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience

Aram Yang, Jinsup Kim, Sung Yoon Cho, Dong-Kyu Jin

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat, Alexandre Méjat

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra, Bruno Bembi

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K. Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Fabry disease and incidence of cancer

Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Prevalence of Amyloidosis in Korea

Su Ra Seo, Shin Yi Jang, Ga Yeon Lee, Bareun Choi, Heeran Chun, Eun Jeong Cho, Sung-il Cho

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

Marco Ritelli, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium

01.12.2017 | Research | Ausgabe 1/2017 Open Access

The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study

Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki, Handrean Soran

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa, Tatsuo Matsunaga

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia

Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome

Anca Chiriac, Adrian Naznean, Cristian Podoleanu, Simona Stolnicu

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck

01.12.2017 | Review | Ausgabe 1/2017 Open Access

The complete European guidelines on phenylketonuria: diagnosis and treatment

A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter, F. J. van Spronsen

01.12.2017 | Research | Ausgabe 1/2017 Open Access

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Unmet clinical needs and burden in Angelman syndrome: a review of the literature

Anne C. Wheeler, Patricia Sacco, Raquel Cabo

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Cognitive impairment profile in adult patients with Niemann pick type C disease

Camille Heitz, Stéphane Epelbaum, Yann Nadjar

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno, for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Mortality in patients with Sanfilippo syndrome

Christine Lavery, Chris J. Hendriksz, Simon A. Jones

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children

Hui Liu, Jinrong Liu, Huimin Li, Yun Peng, Shunying Zhao

01.12.2017 | Erratum | Ausgabe 1/2017 Open Access

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Rob Ramakers, Saskia Koene, Jan T. Groothuis, Paul de Laat, Mirian C. H. Janssen, Jan Smeitink

01.12.2017 | Position statement | Ausgabe 1/2017 Open Access

Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Thomas Morel, Stefan J. Cano

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States

Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook, W. Dana Flanders

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Health-related quality of life among adults with diverse rare disorders

Kathleen R. Bogart, Veronica L. Irvin

01.12.2017 | Research | Ausgabe 1/2017 Open Access

A novel mutation of HOXA11 in a patient with septate uterus

Ying Zhu, Zhi Cheng, Jing Wang, Beihong Liu, Longfei Cheng, Beili Chen, Yunxia Cao, Binbin Wang

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease

Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken, Leona Hakkaart-van Roijen

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky, Heiko Reutter

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy

Robert E. Brown, Senthil Senniappan, Khalid Hussain, Mary F. McGuire

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao

01.12.2017 | Review | Ausgabe 1/2017 Open Access

KBG syndrome

Dayna Morel Swols, Joseph Foster II, Mustafa Tekin

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

Sandro Manuel Mueller, Saskia Maria Gehrig, Jens A. Petersen, Sebastian Frese, Violeta Mihaylova, Maria Ligon-Auer, Natalia Khmara, Jean-Marc Nuoffer, André Schaller, Carsten Lundby, Marco Toigo, Hans H. Jung

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Down-regulation of miR-9* in the peripheral leukocytes of Huntington’s disease patients

Kuo-Hsuan Chang, Yih-Ru Wu, Chiung-Mei Chen

01.12.2017 | Letter to the Editor | Ausgabe 1/2017 Open Access

Receptor of ghrelin is expressed in cutaneous neurofibromas of individuals with neurofibromatosis 1

Rafaela E. Rozza-de-Menezes, Nicolle C. Gaglionone, Raquel M. Andrade-Losso, Orlando H. K. Siqueira, Lilian M. Almeida, Kamila da S. Peruzini, Marco A. C. Guimarães-Filho, Carolina I. Brum, Mauro Geller, Karin S. Cunha

01.12.2017 | Research | Ausgabe 1/2017 Open Access

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das, Sabine Illsinger

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani, Tania Stafinski

01.12.2017 | Review | Ausgabe 1/2017 Open Access

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

John W. Frew, Mark Davidson, Dedee F. Murrell

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