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  1. Research

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

    With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted earl...

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

    Orphanet Journal of Rare Diseases 2017 12:55

    Published on: 16 March 2017

  2. Research

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

    Although currently misclassified in the International Classification of Diseases (ICD) and still not officially listed as a rare disease, anaphylaxis is a well-known clinical emergency. Anaphylaxis is now one ...

    Luciana Kase Tanno, Robert J. G. Chalmers, Moises A. Calderon, Ségolène Aymé and Pascal Demoly

    Orphanet Journal of Rare Diseases 2017 12:53

    Published on: 16 March 2017

  3. Review

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

    Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal...

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

    Orphanet Journal of Rare Diseases 2017 12:52

    Published on: 16 March 2017

  4. Position statement

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

    Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research a...

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

    Orphanet Journal of Rare Diseases 2017 12:50

    Published on: 10 March 2017

  5. Review

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

    Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved ...

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

    Orphanet Journal of Rare Diseases 2017 12:48

    Published on: 9 March 2017

  6. Research

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

    Treatment of Robin sequence is often either invasive or of unproven effectiveness. The pre-epiglottic baton plate (PEBP) is a well-studied alternative, yet is not widely applied internationally. We report on a...

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

    Orphanet Journal of Rare Diseases 2017 12:46

    Published on: 9 March 2017

  7. Research

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

    Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC, was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylk...

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

    Orphanet Journal of Rare Diseases 2017 12:47

    Published on: 9 March 2017

  8. Research

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

    The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (...

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

    Orphanet Journal of Rare Diseases 2017 12:49

    Published on: 9 March 2017

  9. Research

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

    North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. A...

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

    Orphanet Journal of Rare Diseases 2017 12:45

    Published on: 7 March 2017

  10. Research

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

    Clinical trials are typically designed using the classical frequentist framework to constrain type I and II error rates. Sample sizes required in such designs typically range from hundreds to thousands of pati...

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

    Orphanet Journal of Rare Diseases 2017 12:44

    Published on: 2 March 2017

  11. Research

    Time to diagnosis in juvenile idiopathic arthritis: a french perspective

    Juvenile idiopathic arthritis (JIA) is a rare disease that is not widely known by paediatricians and general practitioner (GP) leading to diagnostic error and delayed care provision. We aimed to analyse patien...

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

    Orphanet Journal of Rare Diseases 2017 12:43

    Published on: 28 February 2017

  12. Review

    Yellow nail syndrome: a review

    Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a tri...

    Stéphane Vignes and Robert Baran

    Orphanet Journal of Rare Diseases 2017 12:42

    Published on: 27 February 2017

  13. Research

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

    Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Mal...

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

    Orphanet Journal of Rare Diseases 2017 12:40

    Published on: 21 February 2017

  14. Research

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

    Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to ...

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

    Orphanet Journal of Rare Diseases 2017 12:39

    Published on: 20 February 2017

  15. Research

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

    The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities betwee...

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

    Orphanet Journal of Rare Diseases 2017 12:38

    Published on: 20 February 2017

  16. Research

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

    Rare peritoneal cancers represent complex clinical situations requiring a specific and multidisciplinary management. Because of their rarity, lack of awareness and knowledge often leads to diagnostic delays an...

    L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset and F. N. Gilly

    Orphanet Journal of Rare Diseases 2017 12:37

    Published on: 17 February 2017

  17. Research

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

    Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare ca...

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

    Orphanet Journal of Rare Diseases 2017 12:36

    Published on: 16 February 2017

  18. Research

    Non-optic glioma in adults and children with neurofibromatosis 1

    Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas i...

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

    Orphanet Journal of Rare Diseases 2017 12:34

    Published on: 15 February 2017

  19. Research

    Early disease progression of Hurler syndrome

    Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predictin...

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

    Orphanet Journal of Rare Diseases 2017 12:32

    Published on: 14 February 2017

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