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Orphanet Journal of Rare Diseases|April 13, 2016
POEMS syndrome and calciphylaxis: an unrecognized cause of abnormal small vessel calcificationNobuyuki Araki, Sonoko Misawa, Kazumoto Shibuya, et al.
Orphanet Journal of Rare Diseases|April 25, 2016
MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosisFrancesco Bonella, Xiaoping Long, Shinichiro Ohshimo, et al.
Orphanet Journal of Rare Diseases|April 27, 2016
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosisM Rutten, P Ciet, R van den Biggelaar, et al.
Orphanet Journal of Rare Diseases|April 14, 2016
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting femalesAnna Marcé-Grau, James Dalton, Javier López-Pisón, et al.
Orphanet Journal of Rare Diseases|April 14, 2016
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire systemChanna F de Winter, Melanie Baas, Emilia K Bijlsma, et al.
Orphanet Journal of Rare Diseases|April 20, 2016
Assessing the feasibility of a web-based registry for multiple orphan lung diseases: the Australasian Registry Network for Orphan Lung Disease (ARNOLD) experienceK Casamento, A Laverty, M Wilsher, et al.
Orphanet Journal of Rare Diseases|April 23, 2016
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort studyUrs C Steiner, Christina Weber-Chrysochoou, Arthur Helbling, et al.
Orphanet Journal of Rare Diseases|April 23, 2016
Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber printClaude Hamonet, Daniel Frédy, Jérémie H Lefèvre, et al.
Orphanet Journal of Rare Diseases|July 21, 2017
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disordersYetsa Osara, Kathryn Coakley, Aishwarya Devarajan, et al.
Orphanet Journal of Rare Diseases|August 6, 2017
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?Talita Lemos Paulino, Marina Neto Rafael, Sonia Hix, et al.
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