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Thermolabile methyltetrahydrofolate reductase associated with unusual venous and arterial thromboses.

作者信息

Hall T N, Ramakrishnan L L, Leahy M F

机构信息

Department of Hematology, Fremantle Hospital, Western Australia, Australia.

出版信息

Pathology. 1999 Feb;31(1):36-7. doi: 10.1080/003130299105502.

DOI:10.1080/003130299105502
PMID:10212920
Abstract

We report a patient with unusual venous and arterial thromboses in association with the common thermolabile methyltetrahydrofolate (MTHFR) variant. The patient responded directly to folate supplementation. To our knowledge, this is the first report describing hyperhomocysteinemia in association with this type of thrombosis.

摘要

相似文献

1
Thermolabile methyltetrahydrofolate reductase associated with unusual venous and arterial thromboses.
Pathology. 1999 Feb;31(1):36-7. doi: 10.1080/003130299105502.
2
The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events.维生素B12在空腹高同型半胱氨酸血症中的作用及其与亚甲基四氢叶酸还原酶（MTHFR）基因纯合C677T突变的相互作用。一项针对早发性血栓形成事件患者的病例对照研究。
Thromb Haemost. 2000 Apr;83(4):563-70.
3
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.叶酸状态、亚甲基四氢叶酸还原酶常见突变与血浆同型半胱氨酸浓度之间的关系。
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Heterozygous methylene tetrahydrofolate reductase mutation with mild hyperhomocysteinemia associated with deep vein thrombosis.杂合型亚甲基四氢叶酸还原酶突变伴轻度高同型半胱氨酸血症与深静脉血栓形成相关。
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[Left branch portal vein thrombosis associated with hyperhomocysteinemia].
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Mild hyperhomocysteinemia and MTHFR C677T do not increase the risk for venous thrombosis in a Spanish population.轻度高同型半胱氨酸血症和亚甲基四氢叶酸还原酶C677T不会增加西班牙人群发生静脉血栓形成的风险。
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Homocysteine, folate enzymes and neural tube defects.同型半胱氨酸、叶酸酶与神经管缺陷
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[Homocysteine, 5,10-methylenetetrahydrofolate reductase and deep venous thrombosis. Survey of 120 patients in internal medicine].
Rev Med Interne. 1998 Jan;19(1):29-33. doi: 10.1016/s0248-8663(97)83696-x.

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Thermolabile MTHFR genotype and retinal vascular occlusive disease.热不稳定型亚甲基四氢叶酸还原酶（MTHFR）基因型与视网膜血管阻塞性疾病
Br J Ophthalmol. 2001 Jan;85(1):88-90. doi: 10.1136/bjo.85.1.88.