Defective molecular variants of glucose-6-phosphate dehydrogenase and methaemoglobin reductase.
作者信息
Kaplan J C
出版信息
J Clin Pathol Suppl (R Coll Pathol). 1974;8:134-41.
Abstract
摘要
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Defective molecular variants of glucose-6-phosphate dehydrogenase and methaemoglobin reductase.葡萄糖-6-磷酸脱氢酶和高铁血红蛋白还原酶的缺陷分子变体。
J Clin Pathol Suppl (R Coll Pathol). 1974;8:134-41.
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Heterogeneity of hereditary methaemoglobinaemia: a study of 4 Cuban families with NADH-Methaemoglobin reductase deficiency including a new variant (Santiago de Cuba variant).
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Red cell enzymes.红细胞酶
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Generalized deficiency of the NADH-methemoglobin reductase in congenital methemoglobinemia with neurological symptoms.伴有神经症状的先天性高铁血红蛋白血症中NADH-高铁血红蛋白还原酶的全身性缺乏。
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Congenital methemoglobin-reductase (cytochrome b5 reductase) deficiency associated with mental retardation in a Spanish girl.一名西班牙女孩患先天性高铁血红蛋白还原酶（细胞色素b5还原酶）缺乏症并伴有智力发育迟缓
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[Methemoglobinemia; a description of a case of NADH methemoglobulin reductase deficiency].
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[Hereditary methemoglobinemia caused by NADH methemoglobin reductase deficiency].
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Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation.伴有和不伴有智力迟钝的遗传性高铁血红蛋白血症患者红细胞、血小板和白细胞中NADH-黄递酶及细胞色素b5还原酶活性的改变
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本文引用的文献
1
A single amino Acid substitution (asparagine to aspartic Acid) between normal (b+) and the common negro variant (a+) of human glucose-6-phosphate dehydrogenase.人类葡萄糖-6-磷酸脱氢酶正常型（b+）与常见黑人变异型（a+）之间存在单个氨基酸替换（天冬酰胺替换为天冬氨酸）。
Proc Natl Acad Sci U S A. 1967 Mar;57(3):835-40. doi: 10.1073/pnas.57.3.835.
2
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.
3
The enzymic defect of hereditary methemoglobinemia: diaphorase.遗传性高铁血红蛋白血症的酶缺陷：黄递酶。
Biochim Biophys Acta. 1959 Aug;34:584-6. doi: 10.1016/0006-3002(59)90324-5.
4
HEREDITARY RED CELL TRAITS AND MALARIA.遗传性红细胞性状与疟疾
Am J Trop Med Hyg. 1964 Jan;13:SUPPL147-58. doi: 10.4269/ajtmh.1964.13.147.
5
Purification and properties of diphosphopyridine nucleotide diaphorase of human erythrocytes.人红细胞二磷酸吡啶核苷酸黄递酶的纯化及性质
J Biol Chem. 1962 Jan;237:249-52.
6
Enzymatic deficiency in primaquine-sensitive erythrocytes.伯氨喹敏感红细胞中的酶缺乏。
Science. 1956 Sep 14;124(3220):484-5. doi: 10.1126/science.124.3220.484-a.
7
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.
8
Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man.人类葡萄糖-6-磷酸脱氢酶缺乏症（A-型）的黑人变异型
Science. 1967 Jan 6;155(3758):97-9. doi: 10.1126/science.155.3758.97.
9
On the familial predisposition to favism.关于蚕豆病的家族易感性。
Am J Hum Genet. 1966 May;18(3):253-63.
10
New method for determining ferrihemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes.红细胞中高铁血红蛋白还原酶（NADH-高铁血红蛋白还原酶）测定的新方法。
J Lab Clin Med. 1968 Aug;72(2):339-44.
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