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Updated: Jan 24, 2026

Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
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Published on: January 27, 2023

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确定新生儿严重GABA-转氨酶缺乏症的额外病例

Deima Alammary1, Tisiana Low2, Ganesh Srinivasan1

  • 1Sections of Neonatology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.

JIMD reports
|January 23, 2026
PubMed
概括

一种罕见的代谢障碍GABA转氨酶缺乏症,由于ABAT基因变异,呈现出严重的新生儿症状. 这项研究确定了加拿大土著人口中的创始人效应,并建议进行尿液GABA检测以进行查.

关键词:
在GABA转氨酶缺乏症中.爆破抑制抑制 爆破抑制创始人突变 创始人突变新生儿脑病变 新生儿脑病变尿中的GABA量化.

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