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

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

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

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

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

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

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

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

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations, Hereditas

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

PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

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

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. - Abstract - Europe PMC