Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

PDF) Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

JCM, Free Full-Text

Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - ScienceDirect

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann‐Pick type C patients - Hammerschmidt - 2018 - International Journal of Developmental Neuroscience - Wiley Online Library

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

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

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - ScienceDirect

Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain