线粒体肌病中酶缺陷的异质性组织表达。 - Suppr

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超能文献

Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies.

作者信息

Sperl W, Ruitenbeek W, Trijbels J M, Korenke G C, Sengers R C

机构信息

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

出版信息

J Inherit Metab Dis. 1990;13(3):359-62. doi: 10.1007/BF01799395.

DOI:10.1007/BF01799395

PMID:2172646

Abstract

摘要

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Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

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Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.一名患有致命性新生儿乳酸性酸中毒的婴儿皮肤成纤维细胞中线粒体内NADH氧化缺陷。

Am J Hum Genet. 1985 Sep;37(5):938-46.

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.一种线粒体脑肌病：首例辅酶Q水平存在明确缺陷的病例。

Eur J Pediatr. 1986 Feb;144(5):441-4. doi: 10.1007/BF00441735.

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.丙酮酸脱氢酶两个亚基均缺乏，在成纤维细胞中不表达。

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"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.“脑性”乳酸酸中毒：丙酮酸代谢缺陷，伴有严重脑损伤和轻微全身性酸中毒。

Eur J Pediatr. 1988 Jan;147(1):10-4. doi: 10.1007/BF00442603.

Complexity and tissue specificity of the mitochondrial respiratory chain.线粒体呼吸链的复杂性与组织特异性

J Bioenerg Biomembr. 1988 Jun;20(3):291-311. doi: 10.1007/BF00769634.

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.氧化磷酸化缺陷。骨骼肌的生化研究及其他细胞中病变的表现。

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Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.一名患有乳酸性酸中毒和意外猝死患者的丙酮酸脱氢酶α和β亚基缺乏症

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