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Article

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

Journal of inherited metabolic disease - 1 Feb 2007

Klarner B, Klünemann H H, Lürding R, Aslanidis C, Rupprecht R

Abstract excerpt

Niemann-Pick type C disease is a fatal neurovisceral disorder linked to dysregulation in cholesterol processing. A medication for this disease is currently being tested in clinical trials. However, there is a lack of information on neuropsychological testing parameters for this disease. One aim of this pilot study was to evaluate a test battery that could be used to assess cognitive deficits in different stages...

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Source

Identifiers

PMID: 17160616
DOI: 10.1007/s10545-006-0417-6

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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