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Article

[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Nov 2010

Fraile P Quijada, Hernández E Martín, Martínez de Aragón A, Macias-Vidal J, Coll M J, Espert A Nogales, Silva M T García

Abstract excerpt

INTRODUCTION: Niemann-Pick type C is a lysosomal storage disorder caused by a defect in intracellular trafficking of cholesterol. It is a rare disease, usually caused by mutations in NPC1 gene, but in some cases by mutations in NPC2 gene. Usually it is present in the paediatric age with a great variability of clinical manifestations. This disease leads to neurological degeneration with various age-related...

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Source

Identifiers

PMID: 20826119
DOI: 10.1016/j.anpedi.2010.07.008

Genes

NPC1
NPC2

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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