Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

doi:10.1159/000112178

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Article

Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

Developmental neuroscience - 1 Jan 1991

Vanier M T, Rodriguez-Lafrasse C, Rousson R, Duthel S, Harzer K, Pentchev P G, Revol A, Louisot P

Abstract excerpt

Within Niemann-Pick diseases, type C has now been demonstrated to be a nosological entity totally distinct from types A and B, and is best characterized at present by unique abnormalities of intracellular translocation of exogenous cholesterol, which are briefly reviewed. Although the primary defect is still unknown in type C Niemann-Pick disease, this discovery has had immediate medical applications, by...

Topics

Adolescent
Adult
Animals
Biological Transport
Biomarkers
Brain
Cells, Cultured
Cholesterol
Disease Models, Animal
Female
Fibroblasts
Genetic Complementation Test

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Liver

Lysosomes

Male

Mice

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 1817036
DOI: 10.1159/000112178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1817036-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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