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Updated: Jun 17, 2025

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在BTD中双性功能丧失变异导致印度患者的生物丁酶严重缺乏

Balachander Kannan1, Vijayashree Priyadharsini Jayaseelan2, Paramasivam Arumugam3

  • 1Molecular Biology Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, 600 077, TN, India.

Molecular biology reports
|August 9, 2024
PubMed
概括

在一个具有新型BTD基因变异的印度婴儿身上发现了严重的生物酶缺乏症 (BD). 早期诊断和新生儿查对于管理这种可治疗的代谢障碍至关重要.

关键词:
在BTD,BTD就是BTD.生物酶缺乏症 生物酶缺乏症遗传学 遗传学 是一个卫生健康 卫生健康 卫生健康突变突变是一种突变.神经学 神经学

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