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Updated: Jun 22, 2025

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多重乙-CoA脱酶缺乏症:马来西亚队列的表型和遗传特征

Jie Ping Schee1, Joo San Tan2, Cheng Yin Tan3

  • 1Division of Neurology, Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia. scheejieping@um.edu.my.

Journal of clinical neurology (Seoul, Korea)
|July 2, 2024
PubMed
概括

这项研究详细介绍了马来西亚的多重乙-CoA脱酶缺乏症 (MADD),发现大多数患者患有晚发,与ETFDH突变具有利博胺反应的MADD. 该研究确定了一种新的ETFDH突变,并报告了第一批马来MADD患者.

关键词:
电子转移黄蛋白脱基酶的电子转移脂质储存肌病症 脂肪储存肌病症 脂肪储存肌病症多重乙-CoA脱酶缺乏症

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