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Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.

作者信息

Scholte H R, Busch H F, Luyt-Houwen I E

机构信息

Department of Biochemistry, Erasmus University Rotterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1992;15(3):331-4. doi: 10.1007/BF02435969.

DOI:10.1007/BF02435969
PMID:1405466
Abstract
摘要

相似文献

1
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
J Inherit Metab Dis. 1992;15(3):331-4. doi: 10.1007/BF02435969.
2
A mitochondrial myopathy in an infant with lactic acidosis.
Dev Med Child Neurol. 1990 Jun;32(6):528-31. doi: 10.1111/j.1469-8749.1990.tb16979.x.
3
Lactic acidosis and mitochondrial myopathy in a young woman.
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4
[Magnetic resonance imaging in thiamine responsive pyruvate dehydrogenase complex deficiency].[硫胺素反应性丙酮酸脱氢酶复合物缺乏症的磁共振成像]
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Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.一名硫胺素反应性先天性乳酸性酸中毒患者丙酮酸脱氢酶异常的分子分析
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6
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7
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.三名硫胺素反应性丙酮酸脱氢酶复合体缺乏症男性患者的诊断与分子分析
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Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.线粒体电子传递复合体I中还原型烟酰胺腺嘌呤二核苷酸脱氢酶成分缺乏。致命性婴儿乳酸酸中毒和伴有骨骼肌-心肌病及脑病的高代谢。
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Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.硫胺素反应性乳酸血症：丙酮酸脱氢酶复合物的作用
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本文引用的文献

1
Thiamine-responsive inborn errors of metabolism.硫胺素反应性先天性代谢缺陷
J Inherit Metab Dis. 1985;8 Suppl 1:70-5. doi: 10.1007/BF01800663.
2
The role of the carnitine system in myocardial fatty acid oxidation: carnitine deficiency, failing mitochondria and cardiomyopathy.肉碱系统在心肌脂肪酸氧化中的作用：肉碱缺乏、线粒体功能障碍与心肌病
Basic Res Cardiol. 1987;82 Suppl 1:63-73. doi: 10.1007/978-3-662-08390-1_8.
3
Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.亚急性坏死性脑脊髓病中的细胞色素c氧化酶缺乏症。
黄素腺嘌呤二核苷酸挽救成核蛋白缺陷表型。
PLoS One. 2010 Jan 25;5(1):e8872. doi: 10.1371/journal.pone.0008872.
4
The treatment of congenital lactic acidoses.先天性乳酸性酸中毒的治疗。
J Inherit Metab Dis. 1996;19(4):573-80. doi: 10.1007/BF01799117.
J Neurol Sci. 1987 Jan;77(1):103-15. doi: 10.1016/0022-510x(87)90211-5.
4
Disorders of the pyruvate dehydrogenase complex.丙酮酸脱氢酶复合体紊乱
J Inherit Metab Dis. 1986;9(2):105-19. doi: 10.1007/BF01799447.
5
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。
J Inherit Metab Dis. 1987;10 Suppl 1:81-97. doi: 10.1007/BF01812849.
6
Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia.眼肌病患者及全身麻醉后人体肌肉中的氧化磷酸化
Biochim Biophys Acta. 1990 Jul 25;1018(2-3):211-6. doi: 10.1016/0005-2728(90)90251-x.
7
Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens.从新鲜和冷冻保存的肌肉标本中分离出的人体骨骼肌线粒体中细胞色素的测量。
Biochem Med. 1978 Jun;19(3):366-73. doi: 10.1016/0006-2944(78)90037-6.