The genetics of metabolic disorders.
作者信息
Hopkinson D A
出版信息
Postgrad Med J. 1972 Apr;48(559):207-11. doi: 10.1136/pgmj.48.558.207.
Abstract
摘要
相似文献
1
The genetics of metabolic disorders.代谢紊乱的遗传学
Postgrad Med J. 1972 Apr;48(559):207-11. doi: 10.1136/pgmj.48.558.207.
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[CONGENITAL HEMOLYTIC ANEMIA DUE TO ENZYME DEFICIENCY OF ERYTHROCYTES].
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[Genetic aspects of metabolic disorders].[代谢紊乱的遗传学方面]
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Red cell isozymes in the Eastern Carolines.东加罗林群岛的红细胞同工酶。
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引用本文的文献
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The skin in genetically-controlled metabolic disorders.基因控制的代谢紊乱中的皮肤。
J Med Genet. 1973 Jun;10(2):101-11. doi: 10.1136/jmg.10.2.101.
本文引用的文献
1
Electrophoresis of red cell NADH- and NADPH-diaphorases in normal subjects and patients with congenital methemoglobinemia.正常受试者和先天性高铁血红蛋白血症患者红细胞NADH-和NADPH-黄递酶的电泳分析
Biochem Biophys Res Commun. 1967 Nov 30;29(4):605-10. doi: 10.1016/0006-291x(67)90529-3.
2
RED CELL ACID PHOSPHATASE VARIANTS: A NEW HUMAN POLYMORPHISM.红细胞酸性磷酸酶变体：一种新的人类多态性
Nature. 1963 Sep 7;199:969-71. doi: 10.1038/199969a0.
3
Demonstration of an enzyme variant in a case of congenital methaemoglobinaemia.先天性高铁血红蛋白血症病例中一种酶变体的证实。
Br Med J. 1967 Oct 28;4(5573):212-4. doi: 10.1136/bmj.4.5573.212.
4
Enzyme and protein polymorphism in human populations.人类群体中的酶与蛋白质多态性。
Br Med Bull. 1969 Jan;25(1):5-13. doi: 10.1093/oxfordjournals.bmb.a070670.
5
Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes.人类红细胞和白细胞中磷酸己糖异构化缺陷的发生。
N Engl J Med. 1969 Jan 9;280(2):66-71. doi: 10.1056/NEJM196901092800203.
6
Inherited variations in human phosphohexose isomerase.人类磷酸己糖异构酶的遗传变异
Ann Hum Genet. 1968 May;31(4):329-38. doi: 10.1111/j.1469-1809.1968.tb00565.x.
7
8
Electrophoretic and functional variants of NADH-methemoglobin reductase in hereditary methemoglobinemia.遗传性高铁血红蛋白血症中NADH-高铁血红蛋白还原酶的电泳及功能变体
J Clin Invest. 1971 Jan;50(1):196-202. doi: 10.1172/JCI106473.
9
Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality.与一种异常红细胞己糖激酶异常相关的先天性非球形细胞溶血性贫血。
J Lab Clin Med. 1970 Oct;76(4):593-602.
10
Heterogeneity of the enzymatic defect in congenital methemoglobinemia.
N Engl J Med. 1969 Oct 23;281(17):919-22. doi: 10.1056/NEJM196910232811702.
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