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Article

[Wolman disease with novel mutation of LIPA gene in a Chinese infant].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2012

Huang Yong-lan, Sheng Hui-ying, Zhao Xiao-yuan, Yu Jia-kang, Li Le, Liu Hong-sheng, Gu Cong-min, He Deng-min, Liu Li

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis. METHOD: Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23158738

Genes

LIPA

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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