Genetical theory and the "inborn errors of metabolism".
作者信息
Harris H
出版信息
Br Med J. 1970 Feb 7;1(5692):321-7. doi: 10.1136/bmj.1.5692.321.
Abstract
摘要
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Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject.来自一名瓜氨酸血症患者的培养细胞中的精氨琥珀酸合成酶活性和瓜氨酸代谢
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A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。
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The nature of the defect in tyrosine metabolism in alcaptonuria.黑尿症中酪氨酸代谢缺陷的本质。
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Nature. 1967 Mar 4;213(5079):882-3. doi: 10.1038/213882a0.
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Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。
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