枫糖尿症的分子诊断：支链α-酮酸脱氢酶多酶复合物基因突变的筛查与鉴定 - Suppr

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Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

作者信息

Nobukuni Y, Mitsubuchi H, Ohta K, Akaboshi I, Indo Y, Endo F, Matsuda I

机构信息

Department of Pediatrics, Kumamoto University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1992;15(5):827-33. doi: 10.1007/BF01800029.

DOI:10.1007/BF01800029

PMID:1434524

Abstract

摘要

相似文献

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

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本文引用的文献

Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.

Hum Genet. 1984;65(4):358-61. doi: 10.1007/BF00291560.

Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

Hum Genet. 1984;68(1):54-6. doi: 10.1007/BF00293872.

Enzyme activity in classical and variant forms of maple syrup urine disease.

J Pediatr. 1972 Aug;81(2):312-20. doi: 10.1016/s0022-3476(72)80301-9.

Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts.

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Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

J Clin Invest. 1985 Mar;75(3):858-60. doi: 10.1172/JCI111783.

Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases.

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Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

J Clin Invest. 1987 Jul;80(1):63-70. doi: 10.1172/JCI113064.

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.

Hum Genet. 1988 Sep;80(1):6-10. doi: 10.1007/BF00451447.

Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.

Proc Natl Acad Sci U S A. 1988 Mar;85(5):1422-6. doi: 10.1073/pnas.85.5.1422.

Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure.

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