Mental retardation in methemoglobinemia due to diaphorase deficiency.

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作者信息

Fialkow P J, Browder J A, Sparkes R S, Motulsky A G

出版信息

N Engl J Med. 1965 Oct 14;273(16):840-5. doi: 10.1056/NEJM196510142731602.

DOI:10.1056/NEJM196510142731602

PMID:4378489

Abstract

摘要

相似文献

Mental retardation in methemoglobinemia due to diaphorase deficiency.

N Engl J Med. 1965 Oct 14;273(16):840-5. doi: 10.1056/NEJM196510142731602.

[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.

[Familial NADH diaphorase deficiency].[家族性烟酰胺腺嘌呤二核苷酸黄递酶缺乏症]

Nouv Rev Fr Hematol. 1972 Jul-Aug;12(4):560-3.

[On a new case of congenital methemoglobinemia caused by deficiency of diaphorease with grave cerebropathy].

Fracastoro. 1968 Mar-Apr;61(2):121-8.

[Congenital methemoglobinemia caused by the NADH-diaphorase deficiency].

Med Pregl. 1971;24(9):463-7.

[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.

[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.

[Genetic injuries in 2 families with congenital methemoglobinemia caused by diaphorase I deficiency].[两例由黄递酶I缺乏引起的先天性高铁血红蛋白血症家族中的遗传损伤]

Minerva Pediatr. 1969 May 5;21(18):800-4.

[Enterogenons methemoglobinemia caused by heterozygotic deficiency of erythrocytic NADH-methemoglobin reductase].红细胞NADH-高铁血红蛋白还原酶杂合性缺乏所致肠源性高铁血红蛋白血症

Blut. 1974 Jul;29(1):43-9. doi: 10.1007/BF01631580.

[Congenital methemoglobinemia due to NADH (DPNH) dependent methemoglobin reductase deficiency].[因NADH（DPNH）依赖性高铁血红蛋白还原酶缺乏所致的先天性高铁血红蛋白血症]

Mars Med. 1972;109(4):279-81.

引用本文的文献

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.

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.

[Familial deficiency of NADH-dependent methemoglobin-reductase associated with glycerin-1-phosphate-dehydrogenase activity in the erythrocytes].[家族性NADH依赖性高铁血红蛋白还原酶缺乏与红细胞中甘油-1-磷酸脱氢酶活性相关]

Klin Wochenschr. 1971 Dec 1;49(23):1294-8. doi: 10.1007/BF01733086.

Activity of NADH- and NADPH-dependent methemoglobin reductases in erythrocytes from fetal to adult age. A parallel assessment.从胎儿到成人阶段红细胞中NADH和NADPH依赖性高铁血红蛋白还原酶的活性。一项平行评估。

Klin Wochenschr. 1971 Sep 1;49(17):972-7. doi: 10.1007/BF01489462.

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.

Automated determination of red cell methaemoglobin reductase activity by a continuous-flow system for screening hereditary methaemoglobinaemia.通过连续流动系统自动测定红细胞高铁血红蛋白还原酶活性以筛查遗传性高铁血红蛋白血症。

J Clin Pathol. 1979 Jun;32(6):584-9. doi: 10.1136/jcp.32.6.584.

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