[The enzyme defect in recessive congenital methemoglobinemia with encephalopathy. A new defective variant of NADH-diaphorase (Beni-Messous variant)].

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作者信息

Kaplan J C, Leroux A, Bakouri S, Grangaud J P, Benabadji M

出版信息

Nouv Rev Fr Hematol. 1974 Nov-Dec;14(6):755-70.

PMID:4282504

Abstract

摘要

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Membrane-bound cytochrome b5 reductase (methemoglobin reductase) in human erythrocytes. Study in normal and methemoglobinemic subjects.人红细胞中的膜结合细胞色素b5还原酶（高铁血红蛋白还原酶）。对正常人和高铁血红蛋白血症患者的研究。

J Clin Invest. 1981 Jan;67(1):149-55. doi: 10.1172/JCI110007.

Lipids of myelin, white matter and gray matter in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.先天性高铁血红蛋白血症伴智力发育迟缓患者细胞色素b5还原酶普遍缺乏情况下的髓磷脂、白质和灰质脂质

Lipids. 1980 Apr;15(4):272-5. doi: 10.1007/BF02535839.

Quantitative variations of red-cell cytochrome b5 reductase (NADH-methemoglobin-reductase) in the Algerian population: evidence for defective alleles.阿尔及利亚人群中红细胞细胞色素b5还原酶（NADH-高铁血红蛋白还原酶）的定量变异：缺陷等位基因的证据。

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[Immunological studies on glucosephosphate isomerase deficiency: instability and impaired synthesis of the defective enzyme (author's transl)].

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Advances in hereditary red cell enzyme anomalies.遗传性红细胞酶异常的进展

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