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[Clinical and genetic special features of Niemann-Pick disease, type C].

Vestnik Rossiiskoi akademii meditsinskikh nauk - 1 Jan 2012

Zakharova E Iu, Mikhaĭlova S V, Proshliakova T Iu, Rudenskaia G E

Abstract excerpt

Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its...

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Source

Identifiers

PMID: 23530428

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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