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[Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Apr 2023

Li Ke-Yao, Tang Jian-Ping, Jiang Yan-Ling, Yue Shu-Zhen, Zhou Bin, Wen Rong, Zhou Ze-Tao, Wei Zhu

Abstract excerpt

A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and...

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Identifiers

PMID: 37073846
DOI: 10.7499/j.issn.1008-8830.2211062
PMCID: PMC10120338

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