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Orphanet Journal of Rare Diseases|January 16, 2017
Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjectsN Guérard, O Morand, J DingemanseOrphanet Journal of Rare Diseases|October 25, 2016
Childhood-onset granulomatosis with polyangiitis and microscopic polyangiitis: systematic review and meta-analysisMichele Iudici, Pierre Quartier, Benjamin Terrier, et al.Orphanet Journal of Rare Diseases|November 6, 2016
Gene expression profiles and protein-protein interaction networks in amyotrophic lateral sclerosis patients with C9orf72 mutationMeena Kumari Kotni, Mingzhu Zhao, Dong-Qing WeiOrphanet Journal of Rare Diseases|February 12, 2017
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage diseaseMaja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, et al.Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.Orphanet Journal of Rare Diseases|February 3, 2017
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiencyRoberta Battini, M Grazia Alessandrì, Claudia Casalini, et al.Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.Orphanet Journal of Rare Diseases|January 20, 2017
Bibliometric analysis of literature on toxic epidermal necrolysis and Stevens-Johnson syndrome: 1940 - 2015Waleed M SweilehOrphanet Journal of Rare Diseases|January 23, 2017
Evolving prevalence of haematological malignancies in orphan designation procedures in the European UnionBenedetta Polsinelli, Stelios Tsigkos, Frauke Naumann-Winter, et al.Orphanet Journal of Rare Diseases|January 25, 2017
Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome)Valérie Attali, Christian Straus, Michel Pottier, et al.Pageof 471