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[Early-onset ornithine transcarbamylase deficiency in a pedigree].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jul 2021

Jin D, Li H, Fu J, Liu Y

Abstract excerpt

1例主诉为喂养困难15 h、抽搐1.5 h的男性患儿于生后3 d就诊于吉林大学第一医院新生儿科，结合病史、体征以及质谱检测，诊断为早发型鸟氨酸氨甲酰基转移酶缺乏症（OTCD）。17个月后其母再次生产一男婴，生后亦迅速出现喂养困难，完善基因检测确诊早发型OTCD。2例患儿虽经积极治疗，但均于生后不久死亡。.

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Identifiers

PMID: 34405645
DOI: 10.3760/cma.j.cn112140-20210119-00060

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