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Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.

作者信息

Grünewald S, Bakkeren J, Wanders R A, Wendel U

机构信息

Department of Pediatrics, University Hospital of Düsseldorf, The Netherlands.

出版信息

J Inherit Metab Dis. 1997 Nov;20(6):835-6. doi: 10.1023/a:1005340322558.

DOI:10.1023/a:1005340322558
PMID:9427156
Abstract
摘要

相似文献

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J Inherit Metab Dis. 1997 Nov;20(6):835-6. doi: 10.1023/a:1005340322558.
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Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.
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引用本文的文献

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Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.一名4日龄新生儿因线粒体三功能蛋白/长链3-羟基酰基辅酶A脱氢酶缺乏症猝死及脂肪酸氧化障碍新生儿早期死亡的系统文献综述
Int J Neonatal Screen. 2025 Jan 26;11(1):9. doi: 10.3390/ijns11010009.
2
Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.胎儿左心室致密化不全心肌病及因线粒体三功能蛋白完全缺乏导致的致命结局。
Eur J Pediatr. 2015 Dec;174(12):1689-92. doi: 10.1007/s00431-015-2574-9. Epub 2015 Jun 13.
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Metabolic cardiomyopathies.
代谢性心肌病
Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x.