Diagnostic and predictive methods for a Niemann-Pick disease type

Protocol for initiation of miglustat treatment in NP-C. Reproduced with

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

PDF) Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Screening and identifying hepatobiliary diseases through deep learning using ocular images: a prospective, multicentre study - The Lancet Digital Health

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

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years