Maple syrup urine disease: rapid prenatal diagnosis by enzyme assay.
作者信息
Wendel U, Rüdiger H W, Passarge E, Mikkelsen M
出版信息
Humangenetik. 1973;19(1):127-8. doi: 10.1007/BF00295241.
PMID:4725909
Abstract
摘要
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Maple syrup urine disease: rapid prenatal diagnosis by enzyme assay.
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A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.一种用于测定培养细胞中支链酮酸脱羧作用的快速方法及其在枫糖尿症产前诊断中的应用。
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Maple syrup urine disease: coenzyme function and prenatal monitoring.枫糖尿症：辅酶功能与产前监测
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How to detect maple-syrup urine disease in newborn infants.如何检测新生儿的枫糖尿症。
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Antenatal diagnosis of maple-syrup-urine disease.枫糖尿症的产前诊断。
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Antenatal diagnosis of maple syrup urine disease.
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Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.
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THE METABOLISM OF LEUCINE IN TISSUE CULTURE OF SKIN FIBROBLASTS OF MAPLE-SYRUP-URINE DISEASE.枫糖尿症皮肤成纤维细胞组织培养中亮氨酸的代谢
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Antenatal diagnosis of maple syrup urine disease.
Z Kinderheilkd. 1974;118(3):225-9. doi: 10.1007/BF00464613.
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Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.枫糖尿症的杂合子检测与遗传咨询：贝叶斯定理的应用
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Maple syrup urine disease: treatment of the acutely ill newborn.
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本文引用的文献
1
Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.通过白细胞和成纤维细胞中的微酶分析法快速诊断枫糖尿症（支链酮酸尿症）
Clin Chim Acta. 1973 May 30;45(4):433-40. doi: 10.1016/0009-8981(73)90046-6.
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