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Article

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

1 Apr 1994

Abstract excerpt

Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group alpha)...

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Identifiers

PMID: 8071958
DOI: 10.1136/jmg.31.4.317

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Source receipt: pubmed, retrieved 7 Sept 2026.

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