Niemann-Pick Diseases - The Medical Biochemistry Page

The Niemann-Pick Diseases page discusses the genetics and clinical features of these related lysosomal storage diseases.

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library

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

Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation - ScienceDirect

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

RCSB PDB - 5U73: Crystal structure of human Niemann-Pick C1 protein

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization