关于“支链酮酸尿症”（枫糖尿症）的研究 - Suppr | 超能文献

[Studies on "branched chain oxoacid aciduria" (maple syrup diseases)].

作者信息

Goedde H W, Blume K G, Möhlenbeck F, Rotthauwe H W, Simon H A, Lang K

出版信息

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

Abstract

摘要

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

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[Maple syrup urine disease with an intermittent relatively benign course].[间歇性相对良性病程的枫糖尿症]

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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。

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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。

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引用本文的文献

1

Detection of heterozygotes in maple syrup urin disease: role of lymphocyte count.枫糖尿症杂合子的检测：淋巴细胞计数的作用

Humangenetik. 1968;6(2):189-90. doi: 10.1007/BF00297728.

2

Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.白细胞和培养成纤维细胞中枫糖尿症杂合子检测的评估

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

3

[On the problem of assigning genes to definite human autosomes with the aid of chromosome aberrations].[关于借助染色体畸变将基因定位到特定人类常染色体的问题]

Humangenetik. 1967;4(2):85-103. doi: 10.1007/BF00291253.