Diagnostic and predictive methods for a Niemann-Pick disease type
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PDF) Genetic and laboratory diagnostic approach in Niemann Pick disease type C

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment - Mengel - 2021 - Journal of Inherited

Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders

Niemann-Pick disease Information

IJMS, Free Full-Text

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

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

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