Diagnostic and predictive methods for a Niemann-Pick disease type
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Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - Top Articles selected by the Editor - Molecular Genetics and Metabolism Reports - Journal - Elsevier
Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
Niemann-Pick disease type C
PDF) Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Niemann-Pick disease type C
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet
Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Niemann–Pick Disease Type C
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, Orphanet Journal of Rare Diseases
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators, Orphanet Journal of Rare Diseases
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
PDF) Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
Niemann Pick Disease - an overview
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