经典型枫糖尿症：辅因子抵抗 - Suppr

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Classical maple syrup urine disease: cofactor resistance.

作者信息

Elsas L J, Pask B A, Wheeler F B, Perl D P, Truster S

出版信息

Metabolism. 1972 Oct;21(10):929-44. doi: 10.1016/0026-0495(72)90027-3.

DOI:10.1016/0026-0495(72)90027-3

PMID:4342010

Abstract

摘要

相似文献

Classical maple syrup urine disease: cofactor resistance.经典型枫糖尿症：辅因子抵抗

Metabolism. 1972 Oct;21(10):929-44. doi: 10.1016/0026-0495(72)90027-3.

Enzyme activity in classical and variant forms of maple syrup urine disease.枫糖尿症经典型和变异型中的酶活性。

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

[Studies on "branched chain oxoacid aciduria" (maple syrup diseases)].关于“支链酮酸尿症”（枫糖尿症）的研究

Med Klin. 1966 Dec 30;61(52):2063-7.

[Disorders of leucine, isoleucine and valine metabolism (maple syrup urine disease)].

Srp Arh Celok Lek. 1975 May;103(5):419-36.

Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.枫糖尿症：培养成纤维细胞中支链酮酸脱羧作用的分析

Pediatr Res. 1975 Sep;9(9):709-17. doi: 10.1203/00006450-197509000-00005.

[CLINICAL, BIOCHEMICAL, AND NEUROPATHOLOGIC ASPECTS OF MAPLE SYRUP URINE DISEASE. A KETOACIDURIA OF THE OPEN CHAIN AMINOACIDS LEUCINE, ISOLEUCINE AND VALINE].

An Fac Med Lima. 1963 Sep;46:339-65.

The role of thiamin in maple syrup urine disease.硫胺素在枫糖尿症中的作用。

Ann N Y Acad Sci. 1982;378:404-21. doi: 10.1111/j.1749-6632.1982.tb31214.x.

Maple syrup urine disease metabolites studies in cerebellum cultures.枫糖尿症代谢物在小脑培养物中的研究。

J Neurochem. 1969 Jul;16(7):1141-6. doi: 10.1111/j.1471-4159.1969.tb05959.x.

Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.异戊酸血症患者培养皮肤成纤维细胞中[1-(14)C]和[2-(14)C]亮氨酸的代谢。代谢缺陷的特征。

J Clin Invest. 1976 Jul;58(1):164-72. doi: 10.1172/JCI108446.

Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.一名19岁女性分支链酮酸尿症变异型的生化研究。

Pediatrics. 1971 Nov;48(5):795-801.

引用本文的文献

Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.对五名患有不同类型枫糖尿症患者的淋巴细胞进行互补分析。

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

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.缺乏支链酰基转移酶作为枫糖尿症的病因

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

Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.支链酰基转移酶缺陷型人成纤维细胞系中支链2-氧代酸脱氢酶磷酸化状态的改变

J Inherit Metab Dis. 1991;14(1):37-44. doi: 10.1007/BF01804386.

Mild variant of maple syrup urine disease.枫糖尿症的轻型变异型

Eur J Pediatr. 1976 Dec 9;124(1):31-6. doi: 10.1007/BF00452411.

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