丙酮酸脱氢酶复合物缺陷所致乳酸酸中毒：一种可能的脑丙酮酸脱氢酶磷酸酶缺乏症。 - Suppr | 超能文献

Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency.

作者信息

Koster J F, Slee R G, Fernandes J

出版信息

Monogr Hum Genet. 1978;9:7-11. doi: 10.1159/000401601.

DOI:10.1159/000401601

Abstract

摘要

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Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency.丙酮酸脱氢酶复合物缺陷所致乳酸酸中毒：一种可能的脑丙酮酸脱氢酶磷酸酶缺乏症。

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[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis].

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Inherited lactic acidosis: correction of the defect in cultured fibroblasts.遗传性乳酸性酸中毒：培养成纤维细胞中缺陷的纠正。

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene () causing pyruvate dehydrogenase complex deficiency.丙酮酸脱氢酶磷酸酶催化亚基基因中的一种新型无效突变导致丙酮酸脱氢酶复合物缺乏症。

JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul.

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Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.丙酮酸脱氢酶磷酸酶1（PDP1）基因无效突变会导致致死性婴儿表型。

Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30.

3

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.正常和成纤维细胞缺陷型中的丙酮酸脱氢酶复合物活性

J Clin Invest. 1981 May;67(5):1463-71. doi: 10.1172/jci110176.