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Updated: Sep 18, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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HMG-CoA合成-2 缺乏:新生儿高血性昏迷和异常的代谢查类似糖尿病

Hathaipat Vaseenon1,2, Thipwimol Tim-Aroon1, Vitchayaporn Emarach Saengow3

  • 1Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand.

JIMD reports
|June 23, 2025
PubMed
概括

线粒体HMG-CoA合成酶-2 (HMGCS2) 缺乏症可以出现严重的超氨血症,模仿其他代谢障碍. 早期诊断和管理,包括避免禁食,对于预防受影响个体的急性脱补偿至关重要.

关键词:
在HMGCS2中使用.过高氨血的情况.低血糖症是一种低血糖症.代谢性酸性化症的代谢

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