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Article

[Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study].

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

Chen Qiu-Rong, Zhang Zhen-Jie, Lu Yi-Xiu, Yuan Sun-Bi-Xin, Li Ji

Abstract excerpt

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white...

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Identifiers

PMID: 38112147
DOI: 10.7499/j.issn.1008-8830.2307114
PMCID: PMC10731960

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