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Article

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

BMC medical genetics - 17 Jan 2017

Sheth Jayesh, Joseph Jijo John, Shah Krati, Muranjan Mamta, Mistri Mehul, Sheth Frenny

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent...

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Identifiers

PMID: 28095804
DOI: 10.1186/s12881-017-0367-x
PMCID: PMC5240394

Genes

NPC2
NPC1

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.

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