Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - ScienceDirect
Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine
PDF) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases
Genes, Free Full-Text
Genes, Free Full-Text
Identification of Niemann–Pick type C disease in the group of ataxias of unclear origin in adults - Klyushnikov - Annals of Clinical and Experimental Neurology
Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain
Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery
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