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Article

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Orphanet journal of rare diseases - 28 Jan 2013

Zhang Huiwen, Wang Yu, Gong Zhuwen, Li Xiaoyan, Qiu Wenjuan, Han Lianshu, Ye Jun, Gu Xuefan

Abstract excerpt

BACKGROUND: Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. METHODS: A cohort of 27 Chinese patients diagnosed with acid sphingomyelinase deficiency, within the past five years, were collected and investigated for genotype, phenotype, and their correlations. RESULTS: The majority of our patients (25/27)...

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Identifiers

PMID: 23356216
DOI: 10.1186/1750-1172-8-15
PMCID: PMC3566977

Genes

SMPD1

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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