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Orphanet Journal of Rare Diseases|October 30, 2013
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyHideki Mutai, Naohiro Suzuki, Atsushi Shimizu, et al.
Orphanet Journal of Rare Diseases|December 10, 2013
Natural history of Sanfilippo syndrome in SpainVerónica Delgadillo, Maria del Mar O'Callaghan, Laura Gort, et al.
Orphanet Journal of Rare Diseases|September 26, 2013
Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approachRobert A Stockley, Marc Miravitlles, Claus Vogelmeier, et al.
Orphanet Journal of Rare Diseases|October 18, 2013
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trialHiroshi Kitoh, Masataka Achiwa, Hiroshi Kaneko, et al.
Orphanet Journal of Rare Diseases|October 11, 2013
Development and validation of COMPASS: clinical evidence of orphan medicinal products - an assessment toolEline Picavet, David Cassiman, Bert Aertgeerts, et al.
Orphanet Journal of Rare Diseases|October 16, 2013
New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(®) cohortJessica Taytard, Nadia Nathan, Jacques de Blic, et al.
Orphanet Journal of Rare Diseases|October 19, 2013
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysisJohannes Pfeil, Stefan Listl, Georg F Hoffmann, et al.
Orphanet Journal of Rare Diseases|September 28, 2013
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher diseaseYildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, et al.
Orphanet Journal of Rare Diseases|May 17, 2012
Hypoglycaemia related to inherited metabolic diseases in adultsClaire Douillard, Karine Mention, Dries Dobbelaere, et al.
Orphanet Journal of Rare Diseases|January 16, 2010
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case reportNatalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, et al.
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