Editorial Commentary: Lipid Storage Myopathies.
作者信息
Khadilkar Satish, Desai Mehul
机构信息
Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India.
出版信息
Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):5-6. doi: 10.4103/aian.aian_1026_21. Epub 2022 Jan 12.
Abstract
摘要
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本文引用的文献
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Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.多种酰基辅酶A脱氢酶缺乏症显示出可能的奠基者效应，是伊朗脂质贮积性肌病最常见的病因。
J Neurol Sci. 2020 Apr 15;411:116707. doi: 10.1016/j.jns.2020.116707. Epub 2020 Jan 23.
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Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.迟发性核黄素反应性多发性酰基辅酶 A 脱氢酶缺乏症（MADD）：ETFDH 基因突变的病例报告和流行病学。
BMC Neurol. 2019 Dec 18;19(1):330. doi: 10.1186/s12883-019-1562-5.
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Mitochondrial and Metabolic Myopathies.线粒体和代谢性肌病
Continuum (Minneap Minn). 2019 Dec;25(6):1732-1766. doi: 10.1212/CON.0000000000000805.
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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.多种酰基辅酶 A 脱氢酶缺乏症中核黄素反应性的决定因素。
Pediatr Neurol. 2019 Oct;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015. Epub 2019 Jun 28.
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6
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.迟发性多种酰基辅酶A脱氢酶缺乏症的临床和遗传异质性
Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.
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Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.通过串联质谱法筛查肉碱棕榈酰转移酶II缺乏症。
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