A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.

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作者信息

Niezen-Koning K E, van Spronsen F J, Ijlst L, Wanders R J, Brivet M, Duran M, Reijngoud D J, Heymans H S, Smit G P

机构信息

Beatrix Children's Hospital, University of Groningen, The Netherlands.

出版信息

J Inherit Metab Dis. 1995;18(2):230-2. doi: 10.1007/BF00711775.

DOI:10.1007/BF00711775

PMID:7564255

Abstract

摘要

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本文引用的文献

J Clin Invest. 1993 Mar;91(3):1247-52. doi: 10.1172/JCI116288.

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.通过互补分析诊断肉碱/脂酰肉碱转位酶缺乏症

J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805.

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.线粒体脂肪酸氧化的新基因缺陷与肉碱缺乏症

Adv Pediatr. 1987;34:59-88.

Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.对照受试者和中链酰基辅酶A脱氢酶缺乏症患者白细胞中的脂肪酸β-氧化

Biochim Biophys Acta. 1992 Jan 16;1138(1):80-4. doi: 10.1016/0925-4439(92)90155-g.

Fatty acid oxidation disorders: a new class of metabolic diseases.脂肪酸氧化障碍：一类新型代谢疾病。

J Pediatr. 1992 Jul;121(1):1-11. doi: 10.1016/s0022-3476(05)82532-6.

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.简短报告：线粒体内膜中肉碱-酰基肉碱转位酶缺乏

N Engl J Med. 1992 Jul 2;327(1):19-23. doi: 10.1056/NEJM199207023270104.

Molecular basis of mitochondrial fatty acid oxidation defects.线粒体脂肪酸氧化缺陷的分子基础。

J Lipid Res. 1992 Aug;33(8):1099-110.

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