Conclusions: The homozygous C677T mutation in the MTHFR gene is associated with multiple small-artery occlusions, but not with single small-artery occlusion. Our findings suggest a genetic basis for certain subtypes of ischemic stroke. 展开 关键词: MTHFR Hyperhomocysteinemia Small-artery occlusion ...
Homozygous MTHFR C677T gene mutation and recurrent stroke in an infant . Pediatr Neurol 2006; 35 ( 1 ):49–51Garoufi AJ, Prassouli AA, Attilakos AV, Voudris KA, Katsarou ES (2006) Homozygous MTHFR C677T gene mutation and recur- rent stroke in an infant. Pediatr Neurol 35(1):49-...
An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia...
C 677 T homozygous MTHFR mutation in 4 % , and oral contraceptive use in 22 %. 4%C677T纯合亚甲基四氢叶酸还原酶变异;22%使用口服避孕药. 互联网 The homozygous form is fatal. 纯合子是致命的. 互联网 Only one sample showed 2 D 6 A heterozygous in CYP 2 D 6, the remains are all wil...
C 677 ThomozygousMTHFR mutation in 4 % , and oral contraceptive use in 22 %. 4%C677T纯合亚甲基四氢叶酸还原酶变异;22%使用口服避孕药. 互联网 Thehomozygousform is fatal. 纯合子是致命的. 互联网 Only one sample showed 2 D 6 A heterozygous in CYP 2 D 6, the remains are all wildhomozy...
(PT) mutation.#A retrospective cross-sectional cohort, including 15 MTHFR TT, 32 MTHFR TC and 22 MTHFR CC idiopathic PVT participants contributing demographics, age at PVT, plasma concentrations of homocysteine and of natural anticoagulants.#MTHFR TT carriers presented with a lower age at PVT than...
Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This ...
Background Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered.关键词: Stroke - Familial - MTHFR gene - C677T mutation - G80A RFC-1 mutation - Homocysteine DOI...
Estrogen: Fatal malignant stroke in an adolescent with homozygous MTHFR 677CT mutation: case report
The boy was found to be homozygous for FVL and heterozygous for both MTHFR (C677T) and PAI. At the age of 12, renal transplantation was performed from a deceased donor. Postoperative anticoagulation therapy was initiated with continuous intravenous administration of heparin at the dose of 10IU/...