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Zeitschrift

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases 1/2019

Ausgabe 1/2019

Inhaltsverzeichnis ( 293 Artikel )

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Achondroplasia: a comprehensive clinical review

Richard M. Pauli

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU

Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Moira French, Lisa Gaff, Cerys Gingell, Diane Green, Joanna Gribben, Anne Grimsley, Paula Hallam, Una Hendroff, Melanie Hill, Rachel Hoban, Sarah Howe, Inderdip Hunjan, Kit Kaalund, Eimear Kelleher, Farzana Khan, Steve Kitchen, Karen Lang, Sharan Lowry, Jo Males, Georgina Martin, Nicola McStravick, Avril Micciche, Camille Newby, Claire Nicol, Rachel Pereira, Louise Robertson, Kathleen Ross, Emma Simpson, Kath Singleton, Rachel Skeath, Jacqueline Stafford, Allyson Terry, Ruth Thom, Alison Tooke, Karen vanWyk, Fiona White, Lucy White, Anita MacDonald, British Inherited Metabolic Diseases Group (BIMDG) Dietitians Group

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG

Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos, Raymond Y. Cho

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease

Wladimir Mauhin, Olivier Lidove, Olivier Benveniste

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar, Akhmad Makhmudi

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang, Ni-Chung Lee

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

An ontological foundation for ocular phenotypes and rare eye diseases

Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disorders

Jana Pospiskova, Lukas Smolej, David Belada, Martin Simkovic, Monika Motyckova, Alice Sykorova, Pavla Stepankova, Pavel Zak

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Roman Panovský, Martin Pešl, Tomáš Holeček, Jan Máchal, Věra Feitová, Lenka Mrázová, Jana Haberlová, Alžběta Slabá, Pavel Vít, Veronika Stará, Vladimír Kincl

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical and positron emission tomography responses to long-term high-dose interferon-α treatment among patients with Erdheim–Chester disease

Xin-xin Cao, Na Niu, Jian Sun, Hao Cai, Feng-dan Wang, Yi-ning Wang, Ming-hui Duan, Dao-bin Zhou, Jian Li

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Estimating the clinical cost of drug development for orphan versus non-orphan drugs

Kavisha Jayasundara, Aidan Hollis, Murray Krahn, Muhammad Mamdani, Jeffrey S. Hoch, Paul Grootendorst

01.12.2019 | Research | Ausgabe 1/2019 Open Access

DeepNEU: cellular reprogramming comes of age – a machine learning platform with application to rare diseases research

Wayne R. Danter

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Freeman-Burian syndrome

Mikaela I. Poling, Craig R. Dufresne, Robert L. Chamberlain

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center

Aurélien Guffroy, Yannick Dieudonné, Beatrice Uring-Lambert, Joelle Goetz, Yves Alembik, Anne-Sophie Korganow

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Agnethe Berglund, Mette Hansen Viuff, Anne Skakkebæk, Simon Chang, Kirstine Stochholm, Claus Højbjerg Gravholt

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg

01.12.2019 | Research | Ausgabe 1/2019 Open Access

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

Astrid Pechmann, Kirsten König, Günther Bernert, Kristina Schachtrup, Ulrike Schara, David Schorling, Inge Schwersenz, Sabine Stein, Adrian Tassoni, Sibylle Vogt, Maggie C. Walter, Hanns Lochmüller, Janbernd Kirschner

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Patient involvement in medical research: what patients and physicians learn from each other

Kalen Young, Dana Kaminstein, Ana Olivos, Cristina Burroughs, Celeste Castillo-Lee, Joyce Kullman, Carol McAlear, Dianne G. Shaw, Antoine Sreih, George Casey, Peter A. Merkel, Vasculitis Patient-Powered Research Network

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Cardiac and autonomic function in patients with Wilson’s disease

Silvio Quick, Ulrike Reuner, Marie Weidauer, Charlotte Hempel, Felix Martin Heidrich, Christoph Mues, Krunoslav Michael Sveric, Karim Ibrahim, Heinz Reichmann, Axel Linke, Uwe Speiser

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study

Laura L. Tosi, Marianne K. Floor, Christina M. Dollar, Austin P. Gillies, Tracy S. Hart, David D. Cuthbertson, V. Reid Sutton, Jeffrey P. Krischer, Members of the Brittle Bone Disease Consortium

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis

Melissa Nel, Sharon Prince, Jeannine M. Heckmann

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings

Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little, Kumanan Wilson

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Hemophilia carrier’s awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d’Ivoire (Ivory Coast)

Catherine Lambert, N’ Dogomo Meité, Ibrahima Sanogo, Sébastien Lobet, Eusèbe Adjambri, Stéphane Eeckhoudt, Cedric Hermans

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens

Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha, Steven J. Gray

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia

Elisabetta Buscarini, Luisa Maria Botella, Urban Geisthoff, Anette D. Kjeldsen, Hans Jurgen Mager, Fabio Pagella, Patrizia Suppressa, Roberto Zarrabeitia, Sophie Dupuis-Girod, Claire L. Shovlin, on behalf of VASCERN-HHT

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

Hao Chen, Xin Li, Xiaoliang Liu, Jian Wang, Zhen Zhang, Jinjin Wu, Meirong Huang, Ying Guo, Fen Li, Xiumin Wang, Lijun Fu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Disease progression in women with X-linked adrenoleukodystrophy is slow

Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp, Marc Engelen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The patient’s view on rare disease trial design – a qualitative study

C. M. W. Gaasterland, M. C. Jansen – van der Weide, M. J. du Prie – Olthof, M. Donk, M. M. Kaatee, R. Kaczmarek, C. Lavery, K. Leeson-Beevers, N. O’Neill, O. Timmis, V. van Nederveen, E. Vroom, J. H. van der Lee

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A. Kolb

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Rana Yadak, Marjolein Breur, Marianna Bugiani

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

Márcia Waddington-Cruz, Hartmut Schmidt, Marc F. Botteman, John A. Carter, Michelle Stewart, Markay Hopps, Shari Fallet, Leslie Amass

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Primary pulmonary lymphoma in children

Xiaohui Wu, Chunju Zhou, Ling Jin, Hui Liu, Jinrong Liu, Shunying Zhao

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro, Vivian Kessler

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding, Hilary J. Vernon

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis

Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu, Yimin Cui

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia

Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance

Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert, Marie Christine Vantyghem

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen, A. MacDonald

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols, Maria L. Escolar

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Patient access to orphan drugs in France

Marion Bourdoncle, Blandine Juillard-Condat, Florence Taboulet

01.12.2019 | Research | Ausgabe 1/2019 Open Access

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States

Therese Conner, Francesca Cook, Vivian Fernandez, Karen Rascati, Vanessa Rangel-Miller

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011–2015

Sung-Shil Lim, Wanhyung Lee, Yeong-Kwang Kim, Jihyun Kim, Jong Heon Park, Bo Ram Park, Jin-Ha Yoon

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study

Yue Song, Zhao Wang, Zengping Hao, Lihong Li, Junli Lu, Hongjun Kang, Yanping Lu, Yanqin You, Lijuan Li, Qingyun Chen, Bo Chen

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Guidelines on the diagnosis and management of the progressive ataxias

Rajith de Silva, Julie Greenfield, Arron Cook, Harriet Bonney, Julie Vallortigara, Barry Hunt, Paola Giunti

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness

Logan Zane John Williams

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1

Andreas Selberherr, Oskar Koperek, Philipp Riss, Christian Scheuba, Martin B. Niederle, Reto Kaderli, Aurel Perren, Bruno Niederle

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer, Matthias Gautschi

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Congenital myasthenic syndromes

Josef Finsterer

01.12.2019 | Review | Ausgabe 1/2019 Open Access

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie

01.12.2019 | Research | Ausgabe 1/2019 Open Access

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Web-based personalised information and support for patients with a neuroendocrine tumour: randomised controlled trial

L. D. de Hosson, G. Bouma, J. Stelwagen, H. van Essen, G. H. de Bock, D. J. A. de Groot, E. G. E. de Vries, A. M. E. Walenkamp

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

Jessica Galli, Lorenzo Pinelli, Serena Micheletti, Giovanni Palumbo, Lucia Dora Notarangelo, Vassilios Lougaris, Laura Dotta, Elisa Fazzi, Raffaele Badolato

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study

Marco Confalonieri, Michele Vitacca, Raffaele Scala, Mario Polverino, Eugenio Sabato, Grazia Crescimanno, Piero Ceriana, Caterina Antonaglia, Gabriele Siciliano, Nadja Ring, Serena Zacchigna, Francesco Salton, Andrea Vianello, on behalf of AIPO Pneumoloped Group

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Analysis of LPI-causing mutations on y+LAT1 function and localization

Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Microscopic versus endoscopic transsphenoidal surgery in the Leiden cohort treated for Cushing’s disease: surgical outcome, mortality, and complications

Leonie H. A. Broersen, Femke M. van Haalen, Nienke R. Biermasz, Daniel J. Lobatto, Marco J. T. Verstegen, Wouter R. van Furth, Olaf M. Dekkers, Alberto M. Pereira

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate

Konrad Bork, Petra Staubach-Renz, Jochen Hardt

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Betaine anhydrous in homocystinuria: results from the RoCH registry

Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency

Bernadett Márkus, Nóra Veszeli, György Temesszentandrási, Henriette Farkas, László Kalabay

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The Korean undiagnosed diseases program: lessons from a one-year pilot project

Soo Yeon Kim, Byung Chan Lim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Jung Min Ko, Ki Joong Kim, Sun Ah Choi, Hunmin Kim, Hee Hwang, Ji Eun Choi, Anna Cho, Jangsup Moon, Moon Woo Seong, Sung Sup Park, Yun Jeong Lee, Young Ok Kim, Jon Soo Kim, Won Seop Kim, Young Se Kwon, June Dong Park, Younjhin Ahn, Joo-Yeon Hwang, Hyun-Young Park, Youngha Lee, Murim Choi, Jong-Hee Chae

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study

Simon Ronicke, Martin C. Hirsch, Ewelina Türk, Katharina Larionov, Daphne Tientcheu, Annette D. Wagner

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

E. Poelman, M. Hoogeveen-Westerveld, J. M. P. van den Hout, R. G. M. Bredius, A. C. Lankester, G. J. A. Driessen, S. S. M. Kamphuis, W. W. M. Pijnappel, A. T. van der Ploeg

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis

Anthony M. Lamattina, Sergio Poli, Pranav Kidambi, Shefali Bagwe, Andrew Courtwright, Pierce H. Louis, Shikshya Shrestha, Benjamin Stump, Hilary J. Goldberg, Elizabeth A. Thiele, Ivan Rosas, Elizabeth P. Henske, Souheil El-Chemaly

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Hamish W. Y. Wan, Kate A. Carey, Arlene D’Silva, Nadine A. Kasparian, Michelle A. Farrar

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

Erik Landfeldt, Hanns Lochmüller, Peter Lindgren

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus

Justin T. Tretter, Vi-Hue Tran, Seth Gray, Hieu Ta, Rohit S. Loomba, William O’Connor, Diane E. Spicer, Andrew C. Cook, Robert H. Anderson

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study

Carl Michael Baravelli, Sverre Sandberg, Aasne Karine Aarsand, Mette Christophersen Tollånes

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Characteristics of Pompe disease in China: a report from the Pompe registry

Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu, Yonglan Huang, Zhengqing Qiu, Yanping Wei, Chuanzhu Yan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

Laura Llamosas-Falcón, Eva Bermejo-Sánchez, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso-Ferreira

01.12.2019 | Research | Ausgabe 1/2019 Open Access

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F. Hoffmann, Stefan Kölker

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet’s Aortoiliac aneurysms

Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar, Mai A. Elkalla

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

Fang Peng, Yi-Min Sun, Chao Quan, Jian Wang, Jian-Jun Wu

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov, Gabriel Ángel Martos-Moreno

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The natural history of classic galactosemia: lessons from the GalNet registry

M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri, S. Zeinali

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Demography of vascular Behcet’s disease with different gender and age: an investigation with 166 Chinese patients

Yong Chen, Jian-Fei Cai, Chen-Hong Lin, Jian-Long Guan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers

Magdalena Harrington, Diane Whalley, James Twiss, Rebecca Rushton, Susan Martin, Lynn Huynh, Hongbo Yang

01.12.2019 | Research article | Ausgabe 1/2019 Open Access

Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome

Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman, Michael T. Collins

01.12.2019 | Research | Ausgabe 1/2019 Open Access

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra, Vicente Villanueva

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Inherited ichthyoses: molecular causes of the disease in Czech patients

Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

Nicole M. Muschol, Daniel Pape, Kai Kossow, Kurt Ullrich, Laila Arash-Kaps, Julia B. Hennermann, Ralf Stücker, Sandra R. Breyer

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer, Pierre Wolkenstein, along with the French national network on rare skin diseases (FIMARAD)

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Comparing access to orphan medicinal products in Europe

Bernarda Zamora, Francois Maignen, Phill O’Neill, Jorge Mestre-Ferrandiz, Martina Garau

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wagner, Olaf Witt, Andreas Merkenschlager, Andreas Möckel, Timo Roser, Jan-Ulrich Schlump, Antje Serfling, Juliane Spiegler, Till Milde, Andreas Ziegler, Steffen Syrbe

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova, Anna Shcherbina

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

Liese Vandeborne, Eline van Overbeeke, Marc Dooms, Birgit De Beleyr, Isabelle Huys

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The neuropsychological phenotype of Chediak-Higashi disease

Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro, Wendy J. Introne

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients

Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith, Holly L. Peay

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: 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

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial

Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder, on behalf of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: 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

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: Vascular suture line wrapping for aortoiliac anastomoses following open surgical repair of infrarenal Behçet’s aortoiliac aneurysms

Ahmed Mousa, Ibrahim Hanbal, Alaa Sharabi, Mohammed A. Nasr, Abdelfattah K. Nassar, Mai A. Elkalla

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Screening for neuropathic pain in patients with sickle cell disease: is a single assessment scale sufficient?

Fabricio Dias Antunes, Cidson Leonardo Silva Junior, Karine Santos Cerqueira, Maira do Livramento Faro, Rosana Cipolotti

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases

Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li, Chaodong Wang

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Linear scleroderma “en coup de sabre” with extensive brain involvement—Clinicopathologic correlations and response to anti-Interleukin-6 therapy

Cynthia M. Magro, Pierre Halteh, Luke C. Olson, Ilya Kister, Lee Shapiro

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: 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

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

Hyoung Soo Choi, Qute Choi, Jung-Ah Kim, Kyong Ok Im, Si Nae Park, Yoomi Park, Hee Young Shin, Hyoung Jin Kang, Hoon Kook, Seon Young Kim, Soo-Jeong Kim, Inho Kim, Ji Yoon Kim, Hawk Kim, Kyung Duk Park, Kyung Bae Park, Meerim Park, Sang Kyu Park, Eun Sil Park, Jeong-A Park, Jun Eun Park, Ji Kyoung Park, Hee Jo Baek, Jeong Ho Seo, Ye Jee Shim, Hyo Seop Ahn, Keon Hee Yoo, Hoi Soo Yoon, Young-Woong Won, Kun Soo Lee, Kwang Chul Lee, Mee Jeong Lee, Sun Ah. Lee, Jun Ah Lee, Jae Min Lee, Jae Hee Lee, Ji Won Lee, Young Tak Lim, Hyun Joo Jung, Hee Won Chueh, Eun Jin Choi, Hye Lim Jung, Ju Han Kim, Dong Soon Lee, The Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Linear IgA bullous dermatosis in adults and children: a clinical and immunopathological study of 38 patients

Giovanni Genovese, Luigia Venegoni, Daniele Fanoni, Simona Muratori, Emilio Berti, Angelo Valerio Marzano

01.12.2019 | Research | Ausgabe 1/2019 Open Access

New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis

Toshiya Nomura, Mitsuharu Ueda, Masayoshi Tasaki, Yohei Misumi, Teruaki Masuda, Yasuteru Inoue, Yukimoto Tsuda, Masamitsu Okada, Takahiro Okazaki, Kyosuke Kanenawa, Aito Isoguchi, Makoto Nakamura, Konen Obayashi, Satoru Shinriki, Hirotaka Matsui, Taro Yamashita, Yukio Ando

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The role of patient organizations in the rare disease ecosystem in India: an interview based study

Mohua Chakraborty Choudhury, Gayatri Saberwal

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Research activity and capability in the European reference network MetabERN

Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, the MetabERN collaboration group

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Current challenges in the management of patients with sickle cell disease – A report of the Italian experience

Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco Sorrentino, Donatella Venturelli, Maddalena Casale, Francesca Ferrara, Laura Sainati, Maria Domenica Cappellini, Antonio Piga, Aurelio Maggio, Gian Luca Forni

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Dalil Hamroun, Guillaume Bassez, the Filnemus Myotonic Dystrophy Study Group

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study

Lisa Friedlander, Ariane Berdal, Priscilla Boizeau, Brigitte Alliot Licht, Marie-Cécile Manière, Arnaud Picard, Olivier Azzis, Marie-Paule Vazquez, Corinne Alberti, Muriel De La Dure Molla

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research

Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi, Alastair K. Denniston

01.12.2019 | Research | Ausgabe 1/2019 Open Access

“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease

Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller, Raffaella Willmann, on behalf of the 235th ENMC workshop study group

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Factors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada

Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri, Devidas Menon

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1

M. Judith Peterschmitt, Selena Freisens, Lisa H. Underhill, Meredith C. Foster, Grace Lewis, Sebastiaan J. M. Gaemers

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Occupational therapy for epidermolysis bullosa: clinical practice guidelines

Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek, Phuong Khuu

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

Annalisa Tortora, Maria Elena Riccioni, Eleonora Gaetani, Veronica Ojetti, Grainne Holleran, Antonio Gasbarrini

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases

Chaofeng Li, Lili Liu, Yuhong Tao

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Predictors of paravalvular aortic regurgitation after surgery for Behcet’s disease-related severe aortic regurgitation

Hong-Mi Choi, Hyung-Kwan Kim, Sung-Ji Park, Hyun-Jung Lee, Yeonyee E. Yoon, Jun-Bean Park, Yong-Jin Kim, Goo-Young Cho, In-Chang Hwang, Dae-Won Sohn, Jae K. Oh

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines

K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek, K. M. Mayre-Chilton

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Ming Li, Ken-ichi Hirano, Yoshihiko Ikeda, Masahiro Higashi, Chikako Hashimoto, Bo Zhang, Junji Kozawa, Koichiro Sugimura, Hideyuki Miyauchi, Akira Suzuki, Yasuhiro Hara, Atsuko Takagi, Yasuyuki Ikeda, Kazuhiro Kobayashi, Yoshiaki Futsukaichi, Nobuhiro Zaima, Satoshi Yamaguchi, Rojeet Shrestha, Hiroshi Nakamura, Katsuhiro Kawaguchi, Eiryu Sai, Shu-Ping Hui, Yusuke Nakano, Akinori Sawamura, Tohru Inaba, Yasuhiko Sakata, Yoko Yasui, Yasuyuki Nagasawa, Shintaro Kinugawa, Kazunori Shimada, Sohsuke Yamada, Hiroyuki Hao, Daisaku Nakatani, Tomomi Ide, Tetsuya Amano, Hiroaki Naito, Hironori Nagasaka, Kunihisa Kobayashi, on behalf of the Japan TGCV study group

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Satellite cell content in Huntington’s disease patients in response to endurance training

Sandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, Jens A. Petersen, Maria Ligon-Auer, David Aguayo, Martin Flück, Hans H. Jung, Marco Toigo

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann, Samuel Groeschel

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

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

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies

Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Ryuta Asada, Hiroya Hashimoto, Toshiyuki Fukao

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study

Panayiotis Kouis, Stefania I. Papatheodorou, Nicos Middleton, George Giallouros, Kyriacos Kyriacou, Joshua T. Cohen, John S. Evans, Panayiotis K. Yiallouros

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development

Heloisa Vieira Prado, Natália Cristina Ruy Carneiro, Matheus França Perazzo, Mauro Henrique Nogueira Guimarães de Abreu, Carolina de Castro Martins, Ana Cristina Borges-Oliveira

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Treatment of Satoyoshi syndrome: a systematic review

Julián Solís-García del Pozo, Carlos de Cabo, Javier Solera

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Ovarian primary primitive neuroectodermal tumor: a review of cases at PUMCH and in the published literature

Xiaopei Chao, Yalan Bi, Lei Li

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry

Eli M. Cahan, Steven L. Frick

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Treatment with metformin in twelve patients with Lafora disease

Francesca Bisulli, Lorenzo Muccioli, Giuseppe d’Orsi, Laura Canafoglia, Elena Freri, Laura Licchetta, Barbara Mostacci, Patrizia Riguzzi, Federica Pondrelli, Carlo Avolio, Tommaso Martino, Roberto Michelucci, Paolo Tinuper

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Sonia Emperador, Ester López-Gallardo, Carmen Hernández-Ainsa, Mouna Habbane, Julio Montoya, M. Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease

FS van Leersum, J Potjewijd, M van Geel, PM Steijlen, M Vreeburg

01.12.2019 | Research | Ausgabe 1/2019 Open Access

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Genome sequencing and implications for rare disorders

Jennifer E. Posey

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy

Julio López-Bastida, Juan Manuel Ramos-Goñi, Isaac Aranda-Reneo, Domenica Taruscio, Armando Magrelli, Panos Kanavos

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan

Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Megumi Mori, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Hidefumi Ito, Itsuro Higuchi, Akihiro Hashiguchi, Hiroyuki Nodera, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Ichizo Nishino, Masashi Aoki

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

Nadirah Damseh, Jennifer Stimec, Alan O’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer, Peter Kannu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Implementing reflective multicriteria decision analysis (MCDA) to assess orphan drugs value in the Catalan Health Service (CatSalut)

Laura Guarga, Xavier Badia, Mercè Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent, Caridad Pontes

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

The German National Action League for people with rare diseases: translating the three tiers center system into active co-operation, a one center experience

U. Plöckinger, A. Ziagaki

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust

Beni Gómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, Alicia García Oliva, Manuel Armayones Ruiz

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Rare diseases in China: analysis of 2014–2015 hospitalization summary reports for 281 rare diseases from 96 tertiary hospitals

Xinmiao Shi, Hui Liu, Siyan Zhan, Zhaoxia Wang, Lin Wang, Chongya Dong, Yanfang Wang, Chen Yao, Jie Ding, Yan Li

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres, Stefan A. Kolb

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome

Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

Giulio Calcagni, Maria Cristina Digilio, Bruno Marino, Marco Tartaglia

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Genomic imbalances defining novel intellectual disability associated loci

Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences

Yi Ji, Siyuan Chen, Suhua Peng, Chunchao Xia, Li Li

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Evaluation of neurofibromatosis type 1 progression using a nationwide registry of patients who submitted claims for medical expense subsidies in Japan between 2008 and 2012

Takashi Yamauchi, Machi Suka, Chikako Nishigori, Hiroyuki Yanagisawa

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence

Wojciech Maselbas, Tomasz Litwin, Anna Czlonkowska

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER

Lucas H. P. Bernts, David E. J. Jones, Marleen M. Kaatee, Ansgar W. Lohse, Christoph Schramm, Ekkehard Sturm, Joost P. H. Drenth

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper, Pablo Garcia-Pavia

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang, Xiaoping Chen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

Dalibor Stanimirovic, Eva Murko, Tadej Battelino, Urh Groselj

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Quantitative analysis of a rare disease network’s international contact database and E-repository provides insights into biobanking in the electronic consent era

Alexander Suarez, Curran Reilly, David C. Fajgenbaum

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration

Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations

Sandra Courbier, Rebecca Dimond, Virginie Bros-Facer

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework

Matthew I. Bellgard, Tom Snelling, James M. McGree

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes

Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse, Corinne Vigouroux

01.12.2019 | Research | Ausgabe 1/2019 Open Access

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer, Jane Ashworth, Daniel Hindley, Gemma Arca Diaz, Myfanwy Rawson, Peter Turnpenny

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder, F. Rutsch

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

Siyu Ma, Changming Chen, Qian Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Yan Liu, Qiulan Ding

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, Marcela Del Rio

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli

01.12.2019 | Research | Ausgabe 1/2019 Open Access

A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom

Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett, Richard Thompson

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases

V. Vanhoorne, E. Peeters, I. Van Tongelen, K. Boussery, E. Wynendaele, B. De Spiegeleer, J. P. Remon, C. Vervaet

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan, Stephen H. Tsang

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Sleep disturbances in Wolfram syndrome

Amy Licis, Gabriel Davis, Sarah A. Eisenstein, Heather M. Lugar, Tamara Hershey

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Angiogenesis induction in Buerger's disease: a disease management double-edged sword?

Bahare Fazeli, Shayan Keramat, Ladan Assadi, Hossein Taheri

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen, Guohong Tian

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Health-related quality of life and its risk factors in Chinese hereditary angioedema patients

Shuang Liu, Xue Wang, Yingyang Xu, Qun Xu, Yuxiang Zhi

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Enhanced migration and adhesion of peripheral blood neutrophils from SAPHO patients revealed by RNA-Seq

Yuxiu Sun, Chen Li, Mengmeng Zhu, Shen Zhang, Yihan Cao, Qiao Yang, Pengfei Zhao, Guangrui Huang, Anlong Xu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders

Ludwig Kraus, Olympia Kremmyda, Tatiana Bremova-Ertl, Sebastià Barceló, Katharina Feil, Michael Strupp

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Quality of life of children with achondroplasia and their parents - a German cross-sectional study

Stefanie Witt, Beate Kolb, Janika Bloemeke, Klaus Mohnike, Monika Bullinger, Julia Quitmann

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

M. Fernanda Rozas, Felipe Benavides, Luis León, Gabriela M. Repetto

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry

Antoni Riera-Mestre, José María Mora-Luján, Javier Trujillo-Santos, Jorge Del Toro, José Antonio Nieto, José María Pedrajas, Raquel López-Reyes, Silvia Soler, Aitor Ballaz, Pau Cerdà, Manel Monreal, the RIETE Investigators

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Paulius Palaima, Teodora Chamova, Sebastian Jander, Vanyo Mitev, Christine Van Broeckhoven, Ivailo Tournev, Kristien Peeters, Albena Jordanova

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: 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, Jordi Díaz-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

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases

Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview

Eric T. Rush, Scott Moseley, Anna Petryk

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Recent advances in idiopathic bilateral vestibulopathy: a literature review

Chisato Fujimoto, Masato Yagi, Toshihisa Murofushi

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance

Rui Min, Xiaoyan Zhang, Pengqian Fang, Biyan Wang, He Wang

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong, Dmitry Khodyakov

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Long-term efficacy and safety of sirolimus therapy in patients with lymphangioleiomyomatosis

Siqi Hu, Xiuxiu Wu, Wenshuai Xu, Xinlun Tian, Yanli Yang, Shao-Ting Wang, Song Liu, Xingxiang Xu, Kai-Feng Xu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Segmental schwannomatosis: characteristics in 12 patients

Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein, Juliette Mazereeuw-Hautier

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer, Arndt Rolfs

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia

C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure, P. M. Torring, S. Dupuis-Girod, E. Buscarini, VASCERN-HHT

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Haemophilia A: health and economic burden of a rare disease in Portugal

Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos, Catarina Silva

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease

Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes, Elin Haf Davies

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The cardiovascular phenotype of adult patients with phenylketonuria

Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger, Uwe Querfeld

01.12.2019 | Research | Ausgabe 1/2019 Open Access

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Toshiyuki Fukao

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial

Aram Yang, Jin-Ho Choi, Young Bae Sohn, Yunae Eom, Jiyoon Lee, Han-Wook Yoo, Dong-Kyu Jin

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI

Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom, Gert J. Geurtsen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Ocular manifestations in Gorlin-Goltz syndrome

Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini, Alessandro Lambiase

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort

Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau, Oliver Semler

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis

Mark P. Connolly, Saswat Panda, Julien Patris, Bouke P. C. Hazenberg

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing

Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay, Laurence Le Moyec

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

Keqiang Liu, Wenshuai Xu, Xinlun Tian, Meng Xiao, Xinyue Zhao, Qianli Zhang, Tao Qu, Jiaxing Song, Yaping Liu, Kai-Feng Xu, Xue Zhang

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Update on the management of colchicine resistant Familial Mediterranean Fever (FMF)

Georges El Hasbani, Ali Jawad, Imad Uthman

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force

Noel T Southall, Madhusudan Natarajan, Lilian Pek Lian Lau, Anneliene Hechtelt Jonker, Benoît Deprez, Tim Guilliams, Lawrence Hunter, Carin MA Rademaker, Virginie Hivert, Diego Ardigò, on behalf of the IRDiRC Data Mining and Repurposing Task Force

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Cognitive functioning in patients with classical galactosemia: a systematic review

Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Real-world clinical course of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in Japan

Shuntaro Tsutsumi, Tomoo Sato, Naoko Yagishita, Junji Yamauchi, Natsumi Araya, Daisuke Hasegawa, Misako Nagasaka, Ariella L. G. Coler-Reilly, Eisuke Inoue, Ayako Takata, Yoshihisa Yamano

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

Caroline Hastings, Camilo Vieira, Benny Liu, Cyrus Bascon, Claire Gao, Raymond Y. Wang, Alicia Casey, Sharon Hrynkow

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Management and outcomes of pneumothorax in adult patients with Langerhans cell Histiocytosis

Pierre Le Guen, Sylvie Chevret, Emmanuelle Bugnet, Constance de Margerie-Mellon, Gwenaël Lorillon, Agathe Seguin-Givelet, Fanélie Jouenne, Dominique Gossot, Robert Vassallo, Abdellatif Tazi

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana, Jordi Pérez-López

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter

01.12.2019 | Research | Ausgabe 1/2019 Open Access

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Analysis of economic burden and its associated factors of twenty-three rare diseases in Shanghai

Xiaoshu Cai, Hui Yang, Georgi Z. Genchev, Hui Lu, Guangjun Yu

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang, Chuanzhu Yan, Yun Yuan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Growth characteristics and therapeutic decision markers in von Hippel-Lindau disease patients with renal cell carcinoma

Patrick Schuhmacher, Emily Kim, Felix Hahn, Peggy Sekula, Cordula Annette Jilg, Christian Leiber, Hartmut P. Neumann, Wolfgang Schultze-Seemann, Gerd Walz, Stefan Zschiedrich

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch, Manuel Schiff

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai, Long Li

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud, Maithé Tauber

01.12.2019 | Research | Ausgabe 1/2019 Open Access

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag, Lynne M. Bird

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline Lindemans, Marianna Bugiani, Nicole I. Wolf

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The work, goals, challenges, achievements, and recommendations of orphan medicinal product organizations in India: an interview-based study

Mohua Chakraborty Choudhury, Gayatri Saberwal

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review

Li Ma, Yu Xia, Linlin Wang, Ruifeng Liu, Xuepei Huang, Tiantian Ye, Li Zhang, Qingli Zhu, Jianchu Li, Yuxin Jiang

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers III, Alan L. Shields

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

Left ventricular clefts – incidental finding or pathologic sign of Wilson’s disease?

Kun Zhang, Ulrike Reuner, Marie Weidauer, Uwe Speiser, Karim Ibrahim, Marian Christoph, Frank R. Heinzel, Burkert Pieske, Felix M. Heidrich, Silvio Quick

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Untypical autoimmune pancreatitis and pancreatic cancer: differential diagnosis experiences extracted from misdiagnose of two cases

Gaopeng Li, Ting Liu, Jian Zheng, Wenqin Kang, Jun Xu, Zefeng Gao, Jinfeng Ma

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The effect of impulsivity and inhibitory control deficits in the saccadic behavior of premanifest Huntington’s disease individuals

Filipa Júlio, Gina Caetano, Cristina Januário, Miguel Castelo-Branco

01.12.2019 | Research | Ausgabe 1/2019 Open Access

C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

Nóra Garam, Zoltán Prohászka, Ágnes Szilágyi, Christof Aigner, Alice Schmidt, Martina Gaggl, Gere Sunder-Plassmann, Dóra Bajcsi, Jürgen Brunner, Alexandra Dumfarth, Daniel Cejka, Stefan Flaschberger, Hana Flögelova, Ágnes Haris, Ágnes Hartmann, Andreas Heilos, Thomas Mueller, Krisztina Rusai, Klaus Arbeiter, Johannes Hofer, Dániel Jakab, Mária Sinkó, Erika Szigeti, Csaba Bereczki, Viktor Janko, Kata Kelen, György S. Reusz, Attila J. Szabó, Nóra Klenk, Krisztina Kóbor, Nika Kojc, Maarten Knechtelsdorfer, Mario Laganovic, Adrian Catalin Lungu, Anamarija Meglic, Rina Rus, Tanja Kersnik-Levart, Ernesta Macioniene, Marius Miglinas, Anna Pawłowska, Tomasz Stompór, Ludmila Podracka, Michael Rudnicki, Gert Mayer, Romana Rysava, Jana Reiterova, Marijan Saraga, Tomáš Seeman, Jakub Zieg, Eva Sládková, Tamás Szabó, Andrei Capitanescu, Simona Stancu, Miroslav Tisljar, Kresimir Galesic, András Tislér, Inga Vainumäe, Martin Windpessl, Tomas Zaoral, Galia Zlatanova, Dorottya Csuka

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner, Martina Huemer

01.12.2019 | Research | Ausgabe 1/2019 Open Access

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg, Margreet A. E. M. Wagenmakers

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex

Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy

Shan He, Zhuang Tian, Hongzhi Guan, Jian Li, Quan Fang, Shuyang Zhang

01.12.2019 | Research | Ausgabe 1/2019 Open Access

mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?

Hao Cui, Lei Song, Changsheng Zhu, Ce Zhang, Bing Tang, Shengwei Wang, Guixin Wu, Yubao Zou, Xiaohong Huang, Rutai Hui, Shuiyun Wang, Jizheng Wang

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Obesity in achondroplasia patients: from evidence to medical monitoring

Celine Saint-Laurent, Laura Garde-Etayo, Elvire Gouze

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

Alexandra Morrison, Esmee Oussoren, Tabea Friedel, Jordi Cruz, Nalan Yilmaz

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong, Ruimin Chen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Systemic bevacizumab for high-output cardiac failure in hereditary hemorrhagic telangiectasia: an international survey of HHT centers

Hanny Al-Samkari, Hasan A. Albitar, Scott E. Olitsky, Marianne S. Clancy, Vivek N. Iyer

01.12.2019 | Research | Ausgabe 1/2019 Open Access

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann, Susanne Pitz

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

Hannah Fraser, Julia Geppert, Rebecca Johnson, Samantha Johnson, Martin Connock, Aileen Clarke, Sian Taylor-Phillips, Chris Stinton

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations

C. Salas-Labadía, S. Gómez-Carmona, R. Cruz-Alcívar, D. Martínez-Anaya, V. Del Castillo-Ruiz, C. Durán-McKinster, V. Ulloa-Avilés, E. Yokoyama-Rebollar, A. Ruiz-Herrera, P. Navarrete-Meneses, E. Lieberman-Hernández, A. González-Del Angel, D. Cervantes-Barragán, C. Villarroel-Cortés, A. Reyes-León, D. Suárez-Pérez, A. Pedraza-Meléndez, A. González-Orsuna, P. Pérez-Vera

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Incidence of acquired thrombotic thrombocytopenic purpura in Germany: a hospital level study

Wolfgang Miesbach, Jan Menne, Martin Bommer, Ulf Schönermarck, Thorsten Feldkamp, Martin Nitschke, Timm H. Westhoff, Felix S. Seibert, Rainer Woitas, Rui Sousa, Michael Wolf, Stefan Walzer, Björn Schwander

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio, Daniela Melis

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Jimmy Debladis, Marion Valette, Kuzma Strenilkov, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone, Maïthé Tauber

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

Raffaello Ditaranto, Giuseppe Boriani, Mauro Biffi, Massimiliano Lorenzini, Maddalena Graziosi, Matteo Ziacchi, Ferdinando Pasquale, Giovanni Vitale, Alessandra Berardini, Rita Rinaldi, Giovanna Lattanzi, Luciano Potena, Sofia Martin Suarez, Maria Letizia Bacchi Reggiani, Claudio Rapezzi, Elena Biagini

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang, Jian Wang

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Biliary tract large cell neuroendocrine carcinoma: current evidence

Riva Raiker, Aman Chauhan, Hassan Hasanein, Grant Burkeen, Millicent Horn, Janeesh Veedu, Cory Vela, Susanne Arnold, Jill Kolesar, Lowell Anthony, B. Mark Evers, Michael Cavnar

01.12.2019 | Correction | Ausgabe 1/2019 Open Access

Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno, Raúl Estévez

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi, Rosagemma Ciliberti

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Incontinentia pigmenti burden scale: designing a family burden questionnaire

Charles Taieb, Smail Hadj-Rabia, Jacques Monnet, Mohammed Bennani, Christine Bodemer, the Filière Maladies Rares en Dermatologie

01.12.2019 | Research | Ausgabe 1/2019 Open Access

New insights on congenital pulmonary airways malformations revealed by proteomic analyses

C. Barazzone-Argiroffo, J. Lascano Maillard, I. Vidal, M. L. Bochaton-Piallat, S. Blaskovic, Y. Donati, B. E. Wildhaber, A.-L. Rougemont, C. Delacourt, I. Ruchonnet-Métrailler

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Poor prognostic factors in patients with newly diagnosed intestinal Adamantiades-Behçet’s disease in the Shanghai Adamantiades-Behçet’s disease database: a prospective cohort study

Liang Zhang, Yun Tian, Jing-Fen Ye, Chen-Hong Lin, Jian-Long Guan

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka, Marek Ruchała

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade, Ivonne Jericó

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

01.12.2019 | Letter to the Editor | Ausgabe 1/2019 Open Access

EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa

Andrea Diociaiuti, Holger Steinke, Alexander Nyström, Agnes Schwieger-Briel, Frank Meiss, Christina Pfannenberg, Leena Bruckner-Tuderman, Juri Ruf, Rita De Vito, May El Hachem, Dimitra Kiritsi

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey, Marie Legendre, Aurélie Plessier, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Cottin, Nadia Nathan, Bruno Crestani

01.12.2019 | Research | Ausgabe 1/2019 Open Access

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu

01.12.2019 | Review | Ausgabe 1/2019 Open Access

Cutis marmorata telangiectatica congenita: a literature review

Teresa Nu Phuong Trinh Bui, Ayse Corap, Anette Bygum

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain, Olivier Lidove

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Cutaneous neurofibromas: patients’ medical burden, current management and therapeutic expectations: results from an online European patient community survey

Marlene Guiraud, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Jean-Marc Grégoire, Isabelle Rauly-Lestienne, Ignacio Blanco, Pierre Wolkenstein, Anne-Marie Schmitt

01.12.2019 | Research | Ausgabe 1/2019 Open Access

An analysis of orphan medicine expenditure in Europe: is it sustainable?

Jorge Mestre-Ferrandiz, Christina Palaska, Tom Kelly, Adam Hutchings, Adam Parnaby

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli

01.12.2019 | Position statement | Ausgabe 1/2019 Open Access

Rare diseases in Chile: challenges and recommendations in universal health coverage context

Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein, Gabriela M. Repetto

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report

Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Zhi-Jun Zhu, Hai-Bo Wang, Li-Ying Sun

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Retinal hyperreflective foci in Fabry disease

Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol, Simon Dulz

01.12.2019 | Research | Ausgabe 1/2019 Open Access

Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature

Qiang Wang, Ying-he Li, Guo-le Lin, Yue Li, Wei-xun Zhou, Jia-ming Qian, Wei-bo Xia, Dong Wu

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