Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale OneFile: Health and Medicine
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
PDF) Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Niemann-Pick Type C 1 ( NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition - IOS Press
PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
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