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

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

相似文献

1
[The enzyme defect in recessive congenital methemoglobinemia with encephalopathy. A new defective variant of NADH-diaphorase (Beni-Messous variant)].
Nouv Rev Fr Hematol. 1974 Nov-Dec;14(6):755-70.
2
[Hereditary methemoglobinemia with mental retardation. Study of 3 further cases].[伴有智力发育迟缓的遗传性高铁血红蛋白血症。另外3例病例的研究]
Arch Fr Pediatr. 1971 Jun-Jul;28(6):631-45.
3
Unstable variant of NADH methemoglobin reductase in Puerto Ricans with hereditary methemoglobinemia.患有遗传性高铁血红蛋白血症的波多黎各人中NADH高铁血红蛋白还原酶的不稳定变体。
J Clin Invest. 1972 Jun;51(6):1594-601. doi: 10.1172/JCI106957.
4
An enzyme variation in a case of congenital methemoglobinemia.一例先天性高铁血红蛋白血症中的一种酶变异。
Isr J Med Sci. 1973 Jul;9(7):909-13.
5
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
J Med Genet. 1982 Jun;19(3):204-9. doi: 10.1136/jmg.19.3.204.
6
[Congenital enzymatic methemoglobinemia. Apropos of a heterozygous form in a newborn child].[先天性酶性高铁血红蛋白血症。关于一名新生儿的杂合子形式]
Ann Pediatr (Paris). 1971 Dec 14;18(12):771-6.
7
Congenital methemoglobinemia due to diaphorase deficiency.由于黄递酶缺乏所致的先天性高铁血红蛋白血症。
Acta Haematol. 1972;47(3):175-81. doi: 10.1159/000208513.
8
[Study of NADH-diaphorase activity of leukocytes in congenital recessive methemoglobinemia].
C R Acad Hebd Seances Acad Sci D. 1970 May 4;18:2223-4.
9
Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation.
Nature. 1975 Dec 18;258(5536):619-20. doi: 10.1038/258619a0.
10
Mental retardation in methemoglobinemia due to diaphorase deficiency.由于黄递酶缺乏导致高铁血红蛋白血症中的智力迟钝。
N Engl J Med. 1965 Oct 14;273(16):840-5. doi: 10.1056/NEJM196510142731602.

引用本文的文献

1
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.
2
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.
3
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。
Hum Genet. 1981;59(2):148-55. doi: 10.1007/BF00293065.
4
NADH cytochrome b5 reductase activity in lymphoid cell lines. Expression of the defect in epstein Barr virus transformed lymphoblastoid cell lines from patients with recessive congenital methemoglobinemia.淋巴样细胞系中的NADH细胞色素b5还原酶活性。隐性先天性高铁血红蛋白血症患者的爱泼斯坦-巴尔病毒转化淋巴母细胞系中缺陷的表达。
J Clin Invest. 1981 Jul;68(1):279-85. doi: 10.1172/jci110244.
5
[Immunological studies on glucosephosphate isomerase deficiency: instability and impaired synthesis of the defective enzyme (author's transl)].
Klin Wochenschr. 1975 Dec 1;53(23):1135-6. doi: 10.1007/BF01614284.
6
Molecular mechanism of erythrocyte pyruvate kinase deficiency.红细胞丙酮酸激酶缺乏症的分子机制
Humangenetik. 1975 Oct 7;29(4):271-80. doi: 10.1007/BF00394188.
7
Advances in hereditary red cell enzyme anomalies.遗传性红细胞酶异常的进展
Hum Genet. 1979;50(1):1-27. doi: 10.1007/BF00295584.