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Article

[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2015

Yang Rui, Tan Dongqiong, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuefan, Zhang Huiwen

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians. METHOD: Three sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral...

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Source

Identifiers

PMID: 25748406

Genes

NPC1

Variants

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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