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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...

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PMID: 1817036
DOI: 10.1159/000112178

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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