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[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Aug 2009

Wang Tong, Ye Jun, Han Lian-Shu, Qiu Wen-Juan, Zhang Hui-Wen, Zhang Ya-Fen, Gao Xiao-Lan, Wang Yu, Gu Xue-Fan

Abstract excerpt

OBJECTIVE: To report the clinical diagnosis, treatment and follow-up of children with holocarboxylase synthetas(HCS) deficiency and explore the gene mutation spectrum of the disease. METHODS: Eleven children with HCS deficiency were enrolled. Mass spectrometry analysis and biotinidase activity determination were used for diagnosis of HCS deficiency. HCS gene mutations were analyzed by PCR directed sequencing...

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PMID: 19695181

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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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