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Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation.

作者信息

Leroux A, Junien C, Kaplan J, Bamberger J

出版信息

Nature. 1975 Dec 18;258(5536):619-20. doi: 10.1038/258619a0.

DOI:10.1038/258619a0
PMID:1207738
Abstract
摘要

相似文献

1
Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation.
Nature. 1975 Dec 18;258(5536):619-20. doi: 10.1038/258619a0.
2
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
Acta Haematol. 1978;59(6):348-53. doi: 10.1159/000207786.
3
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.
4
Leukocyte diaphorase deficiency in congenital methemoglobinemia: a valuable prognostic indicator.
Biol Neonate. 1977;32(3-4):193-6. doi: 10.1159/000241016.
5
New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with congenital methemoglobinemia, mental and neurological retardation, and skeletal anomalies.细胞色素b5还原酶缺乏症的新变体（b5RKurashiki），存在于红细胞、血小板、淋巴细胞以及患有先天性高铁血红蛋白血症、智力和神经发育迟缓及骨骼异常的培养成纤维细胞中。
Am J Hematol. 1992 Aug;40(4):299-305. doi: 10.1002/ajh.2830400411.
6
[Hereditary methemoglobinemia due to NADH cytochrome b5 abnormality--clinical importance of the enzyme in leukocytes and platelets].
Rinsho Ketsueki. 1986 Mar;27(3):412-9.
7
Lipids of liver, kidney, spleen and muscle in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.
Lipids. 1984 Jan;19(1):60-3. doi: 10.1007/BF02534610.
8
[Clinical and biological forms of cytochrome b5 reductase deficiency].[细胞色素b5还原酶缺乏症的临床和生物学形式]
C R Seances Soc Biol Fil. 1979;173(2):368-79.
9
Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b5 reductase deficiency: first report of two cases.因全身性细胞色素b5还原酶缺乏导致智力发育迟缓的先天性酶缺乏性高铁血红蛋白血症的产前诊断：两例首例报告
Prenat Diagn. 1981 Jan;1(1):17-24. doi: 10.1002/pd.1970010106.
10
[Hereditary methemoglobinemia with mental retardation and neurologic disorders. Clinical and biochemical study of a case].[伴智力发育迟缓及神经障碍的遗传性高铁血红蛋白血症。1例临床及生化研究]
Nouv Presse Med. 1976 Dec 4;5(41):2793-5.

引用本文的文献

1
Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.II型隐性遗传性高铁血红蛋白血症的细胞和分子机制
J Clin Med. 2018 Oct 10;7(10):341. doi: 10.3390/jcm7100341.
2
Congenital methemoglobinemia type II in a 5-year-old boy.一名5岁男孩患II型先天性高铁血红蛋白血症。
Clin Case Rep. 2017 Dec 7;6(1):170-178. doi: 10.1002/ccr3.1310. eCollection 2018 Jan.
3
The recognition, physiology, and treatment of medication-induced methemoglobinemia: a case report.药物性高铁血红蛋白血症的识别、生理学及治疗：一例报告
Anesth Prog. 2007 Fall;54(3):115-7. doi: 10.2344/0003-3006(2007)54[115:TRPATO]2.0.CO;2.
4
Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family.烟酰胺腺嘌呤二核苷酸磷酸（NAD(P)H）：醌氧化还原酶（NQO）基因家族的更新
Hum Genomics. 2006 Mar;2(5):329-35. doi: 10.1186/1479-7364-2-5-329.
5
Severe neurological impairment in hereditary methaemoglobinaemia type 2.2型遗传性高铁血红蛋白血症中的严重神经功能障碍。
Eur J Pediatr. 2004 Apr;163(4-5):207-9. doi: 10.1007/s00431-004-1409-x. Epub 2004 Feb 18.
6
Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzyme generation in humans.人类细胞色素b5还原酶同工酶产生的转录和翻译机制。
Biochem J. 2001 Apr 15;355(Pt 2):529-35. doi: 10.1042/0264-6021:3550529.
7
A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia.NADH-细胞色素b5还原酶基因3'剪接位点的一种新型点突变导致酶在免疫检测中无法被发现，并且在一名II型遗传性高铁血红蛋白血症患者的培养成纤维细胞中，NADH依赖的抗坏血酸再生受损。
Am J Hum Genet. 1995 Aug;57(2):302-10.
8
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.
9
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.
10
Age-dependent decay of cytochrome b5 and cytochrome b5 reductase in human erythrocytes.人红细胞中细胞色素b5和细胞色素b5还原酶的年龄依赖性衰减。
Biochem J. 1981 Jan 15;194(1):327-30. doi: 10.1042/bj1940327.