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Article

[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jun 2010

Vanier Marie T

Abstract excerpt

The main historical steps leading to the concept of Niemann-Pick type C disease as an intracellular lipid and more specifically a cholesterol transport disorder are summarized; the current stage of knowledge and research hypotheses regarding the function of the NPC1 and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The various approaches for laboratory diagnosis of patients are...

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Source

Identifiers

PMID: 20620894
DOI: 10.1016/S0929-693X(10)70010-5

Genes

NPC1
NPC2

Provenance

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.

Related research

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