由5,10-亚甲基四氢叶酸还原酶缺乏引起的同型胱氨酸尿症：一例对蛋氨酸、亚叶酸、维生素B6和维生素B12治疗有反应的婴儿病例。 - Suppr

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超能文献

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.

作者信息

Harpey J P, Rosenblatt D S, Cooper B A, Le Moël G, Roy C, Lafourcade J

出版信息

J Pediatr. 1981 Feb;98(2):275-8. doi: 10.1016/s0022-3476(81)80660-9.

DOI:10.1016/s0022-3476(81)80660-9

PMID:7007598

Abstract

摘要

相似文献

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.由5,10-亚甲基四氢叶酸还原酶缺乏引起的同型胱氨酸尿症：一例对蛋氨酸、亚叶酸、维生素B6和维生素B12治疗有反应的婴儿病例。

J Pediatr. 1981 Feb;98(2):275-8. doi: 10.1016/s0022-3476(81)80660-9.

Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.甜菜碱治疗因5,10-亚甲基四氢叶酸还原酶缺乏所致的同型胱氨酸尿症。

Eur J Pediatr. 1984 Jun;142(2):147-50. doi: 10.1007/BF00445602.

Combined vitamin responsiveness in homocystinuria.

J Pediatr. 1972 Nov;81(5):946-54. doi: 10.1016/s0022-3476(72)80548-1.

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.甜菜碱用于治疗由亚甲基四氢叶酸还原酶缺乏引起的同型胱氨酸尿症。

Arch Dis Child. 1989 Jul;64(7):1061-4. doi: 10.1136/adc.64.7.1061.

Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.叶酸反应性同型胱氨酸尿症与“精神分裂症”。因5,10-亚甲基四氢叶酸还原酶活性不足导致的甲基化缺陷。

N Engl J Med. 1975 Mar 6;292(10):491-6. doi: 10.1056/NEJM197503062921001.

Follow-up in a child with 5,10-methylenetetrahydrofolate reductase deficiency.

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Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance.

J Pediatr. 1972 Nov;81(5):1014-8. doi: 10.1016/s0022-3476(72)80563-8.

Critical review of cobalamin-folate interrelations.钴胺素-叶酸相互关系的批判性综述。

Blood. 1986 May;67(5):1526.

[An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters].

Rinsho Shinkeigaku. 1996 Feb;36(2):330-5.

Methylenetetrahydrofolate reductase, diet, and risk of colon cancer.亚甲基四氢叶酸还原酶、饮食与结肠癌风险

Cancer Epidemiol Biomarkers Prev. 1999 Jun;8(6):513-8.

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Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with spinal BMD in 9-year-old children.亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与9岁儿童的脊柱骨密度相关。

J Bone Miner Res. 2009 Jan;24(1):117-24. doi: 10.1359/jbmr.080814.

Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency.亚叶酸（5-甲基四氢叶酸）而非叶酸，可降低严重亚甲基四氢叶酸还原酶缺乏动物模型的死亡率。

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The role of vitamins in the pathogenesis and treatment of hyperhomocyst(e)inaemia.维生素在高同型半胱氨酸血症发病机制及治疗中的作用。

J Inherit Metab Dis. 1997 Jun;20(2):316-25. doi: 10.1023/a:1005329427711.

Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

J Inherit Metab Dis. 1994;17(5):560-5. doi: 10.1007/BF00711591.

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.热不稳定型5,10-亚甲基四氢叶酸还原酶作为轻度高同型半胱氨酸血症的一个病因

Am J Hum Genet. 1995 Jan;56(1):142-50.

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.亚甲基四氢叶酸还原酶基因的七个新突变及严重亚甲基四氢叶酸还原酶缺乏症的基因型/表型相关性

Am J Hum Genet. 1995 May;56(5):1052-9.

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