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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。

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.

作者信息

Holme E, Kjellman B, Ronge E

机构信息

Department of Clinical Chemistry, Gothenburg University, Sweden.

出版信息

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

DOI:10.1136/adc.64.7.1061
PMID:2629632
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1792677/
Abstract

A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.

摘要

一名24日龄患有同型胱氨酸尿症和由甲烯四氢叶酸还原酶缺乏引起的低蛋氨酸血症的女孩，出现了快速进展的脑病和肌病。通过甜菜碱治疗几乎完全康复。

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Arch Dis Child. 1989 Jul;64(7):1061-4. doi: 10.1136/adc.64.7.1061.
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本文引用的文献

1
Moderate homocysteinemia--a possible risk factor for arteriosclerotic cerebrovascular disease.中度高同型半胱氨酸血症——动脉粥样硬化性脑血管疾病的一个潜在危险因素。
Stroke. 1984 Nov-Dec;15(6):1012-6. doi: 10.1161/01.str.15.6.1012.
2
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.
3
Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity.与亚甲基四氢叶酸还原酶活性降低相关的同型胱氨酸尿症。
Biochem Biophys Res Commun. 1972 Jan 31;46(2):905-12. doi: 10.1016/s0006-291x(72)80227-4.