Critical role for glycosphingolipids in Niemann-Pick disease type
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Last updated 26 abril 2025


mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts

Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library

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

mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts

Metabolic disease - Lipid Disorders, Cholesterol, Triglycerides

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine
View of The role of glucosylceramide and glucosylceramide synthase in liver disease: from bench to bedside

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure
Characterization of Glycosphingolipids and Their Diverse Lipid Forms through Two-Stage Matching of LC-MS/MS Spectra

Peripheral immune system modulates Purkinje cell degeneration in Niemann–Pick disease type C1

Development of a bile acid–based newborn screen for Niemann-Pick disease type C
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