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

Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

Niemann-Pick Type C 1 ( NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition - IOS Press

Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry

The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale Academic OneFile

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

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients, BMC Medical Genetics

Identification of Niemann–Pick type C disease in the group of ataxias of unclear origin in adults - Klyushnikov - Annals of Clinical and Experimental Neurology

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS