3-酮硫解酶缺乏症：4例患者成纤维细胞中线粒体乙酰乙酰辅酶A硫解酶生物合成缺陷的异质性。 - Suppr

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超能文献

3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.

作者信息

Nagasawa H, Yamaguchi S, Orii T, Schutgens R B, Sweetman L, Hashimoto T

机构信息

Department of Pediatrics, Gifu University School of Medicine, Japan.

出版信息

J Inherit Metab Dis. 1989;12(3):368-72. doi: 10.1007/BF01799244.

DOI:10.1007/BF01799244

PMID:2575689

Abstract

摘要

相似文献

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本文引用的文献

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Eur J Pediatr. 1982 Sep;139(1):39-42. doi: 10.1007/BF00442077.

The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes.

Eur J Biochem. 1980 Feb;103(3):589-96. doi: 10.1111/j.1432-1033.1980.tb05984.x.

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.

Clin Chim Acta. 1983 Mar 14;128(2-3):291-305. doi: 10.1016/0009-8981(83)90329-7.

Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Nature. 1970 Aug 15;227(5259):680-5. doi: 10.1038/227680a0.

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.

Pediatr Res. 1973 Mar;7(3):149-60. doi: 10.1203/00006450-197303000-00007.

A "new" disorder of isoleucine catabolism.

Lancet. 1971 Dec 11;2(7737):1289-90. doi: 10.1016/s0140-6736(71)90605-2.

3-Ketothiolase deficiency.

Eur J Pediatr. 1986 Apr;144(6):586-9. doi: 10.1007/BF00496042.

Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.

J Inherit Metab Dis. 1988;11(3):345-7. doi: 10.1007/BF01800390.

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

J Clin Invest. 1988 Mar;81(3):813-7. doi: 10.1172/JCI113388.

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.

Proc Natl Acad Sci U S A. 1979 Sep;76(9):4350-4. doi: 10.1073/pnas.76.9.4350.

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