经典型枫糖尿症中支链酮酸氧化酶多酶复合物中的脱羧酶缺陷。 - Suppr

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超能文献

Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease.

作者信息

Rüdiger H W, Langenbeck U, Schulze-Schencking M, Goedde H W

出版信息

Humangenetik. 1972;14(4):257-63. doi: 10.1007/BF00290167.

DOI:10.1007/BF00290167

PMID:5051750

Abstract

摘要

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引用本文的文献

Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.

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本文引用的文献

[STUDIES ON THE SUBSTRATE SPECIFICITY OF LIPOIC ACID DEHYDROGENASE. SYNTHESES IN THE LIPOIC ACID SERIES. III].

Biochem Z. 1963 Sep 19;339:23-33.

Maple syrup urine disease.

Br Med J. 1959 Jan 10;1(5114):91-3. doi: 10.1136/bmj.1.5114.91.

[Oxidation of alpha-keto acids and some aldehydes by pyruvate decarboxylase from yeast].

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A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

Pediatrics. 1954 Nov;14(5):462-7.

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.

N Engl J Med. 1967 Jan 12;276(2):84-9. doi: 10.1056/NEJM196701122760204.

Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.

Humangenetik. 1971;11(4):304-15. doi: 10.1007/BF00278658.

[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].

Z Klin Chem Klin Biochem. 1970 Sep 8;7(5):427-39.

A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.

Thin-layer chromatographic separation of 14C-labelled branched-chain alpha-keto acids and hydroxamic acids derived from the corresponding enzymatically formed acyl-CoA compounds.

J Chromatogr. 1971 Oct;61(2):373-4. doi: 10.1016/s0021-9673(00)92438-5.

Multiple exchange transfusions as treatment during the acute period in maple syrup urine disease.

Helv Paediatr Acta. 1972 Sep;27(4):449-56.

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