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A study on the genetic polymorphism of methylenetetrahydrofolate reductase in egnancy - induced hypertensive patient

Kim YJ, Murray JC

  • KMID: 2262080
  • Korean J Obstet Gynecol.
  • 2000 Sep;43(9):1569-1573.
No abstract available.
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Homocysteine, folate, and methylenetetrahydrofolate reductase polymorphism in Korean normal subjects

Choi DS

  • KMID: 2306245
  • Korean J Med.
  • 2000 Feb;58(2):248-249.
No abstract available.
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The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion Associated with Hyperhomocysteinemia

Nam YS, Choi JS, Ha KS, Lee ZW, Oh DY

  • KMID: 1891292
  • Korean J Fertil Steril.
  • 1999 Dec;26(3):441-446.
OBJECTIVE : To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. MATERIAL AND METHOD: The blood Sample of habitual aborter with high fasting homocysteine level was...
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Homocysteine, folate, and methylenetetrahydrofolate reductase polymorphism in korean normal subjects

oh KW, Lee WY, Ahn YB, Song KH, Yoo SJ, Yoon KH, Kang MI, Cha BY, Lee KW, Son HY, Kang SK

  • KMID: 2306253
  • Korean J Med.
  • 1999 Dec;57(6):1030-1036.
BACKGROUND: Hyperhomocysteinemia is an independent risk factor for cardiovascualr disease. Recently, a mutation (677C-->T) was identified in the methylenetetrahydrofolate reductase gene leading to the substitution of valine(V) for alanine(A). This...
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Thermolabile Methylenetetrahydrofolate Reductase Gene Variants in Korean Women with Severe Preeclampsia

Ji IW, Jeong EH, Kim HS, Kim YB, Rho JS, Hong SH, Kim JK, Cho MC

  • KMID: 2076415
  • Korean J Obstet Gynecol.
  • 2001 Nov;44(11):2104-2108.
OBJECTIVE: This study was performed to evaluate C to T substitution at nucleotide 677 of meth-ylenetetrahydrofolate reductase gene in Korean women, which is genetically homogeneous, with preeclamptic or normotensive pregnancies....
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Hyper-homocysteinemia Inducing Hyperuricemia: What are the Mechanisms?

Cacciapuoti F

Hyperuricemia is related to metabolic syndrome, and is defined as an over-production or under-excretion of uric acid (UA), with increased UA serum concentration. Among other causes, Hyper-homocysteinemia (H-Hcy) can be...
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Pulmonary thromboembolism due to severe hyperhomocysteinemia associated with a methyltetrahydrofolate reductase mutation

Cho KH, Jeong MH, Sim DS, Hong YJ, Kim JH, Ahn Y, Kang JC

No abstract available.
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A Rare Case of Cerebral Sinovenous Thrombosis Associated with MTHFR A1298C and C677T Mutations

Kim SH, Lee NM, Chae SA

Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated...
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A Study of Homocysteine Metabolism related Neural Tube Defect

Lee BH

  • KMID: 2208053
  • J Korean Pediatr Soc.
  • 1998 Jan;41(1):110-114.
PURPOSE: Methylenetetrahydrofolate reductase is an important enzyme in homocysteine metabolism. Since the identification of the gene locus and mutation of methylenetetrahydrofolate reductase, an increasing number of reports have suggested that...
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The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion

Nam YS, Cha KY, Kim NK, Kim SH, Lim JW, Kang GD, Kang MS, Kim SH, Oh D

  • KMID: 1979135
  • Korean J Fertil Steril.
  • 2001 Sep;28(3):247.
OBJECTIVE: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. MATERIAL AND METHOD: The blood samples of patients with recurrent spontaneous abortion were tested by PCR-RFLP method. RESULTS:...
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Methylenetetrahydrofolate Reductase Gene Polymorphism in Korean Patients with Migraine or Ischemic Stroke

Kim BK, Kim M, Kang L, Bae HJ, Koo JS, Kwon O, Lee JE, Lee SS

  • KMID: 2343137
  • J Korean Neurol Assoc.
  • 2005 Apr;23(2):176-180.
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism has been implicated in both migraine and ischemic stroke. The homozygous C677T mutation in the MTHFR gene was more frequent in the Japanese and...
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The Analysis of Interrelationship between Homocysteine and Methylenetetrahydrofolate Reductase Mutation in Patients with Recurrent Spontaneous Abortion

Nam YS, Cha KY, Kim NK, Kang MS, Kim SH, Oh D

  • KMID: 1566253
  • Korean J Fertil Steril.
  • 2002 Sep;29(3):187-194.
OBJECTIVE: To analyze the interrelationship between homocysteine and methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. MATERIAL AND METHOD: Homocysteine and MTHFR mutation were tested by fluorescent polarizing immunoassay...
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Small Bowel Infarction by Mesenteric Venous Thrombosis due to Methylenetetrahydrofolate Reductase Gene Mutation

Park IY, Do BJ, Ahn JS, Lee JH, Park JH, Kang JG, Yang BK, Kim HS

Acute mesenteric venous thrombosis (MVT) is an uncommon form of intestinal ischemia with high mortality and usually occurs in the setting of preexisting comorbidities including thrombophilia and abdominal inflammatory conditions....
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Methylenetetrahydrofolate Reductase(MTHFR) Gene Expression in Kawasaki Disease

Choi HR, Joo AR, Kim HS, Sohn S, Hong YM

  • KMID: 2037361
  • Korean J Pediatr.
  • 2004 Jul;47(7):774-778.
PURPOSE: Hyperhomocysteinemia is known as an independent risk factor for cardiovascular diseases such as atherosclesosis and myocardiac infarct. A common mutation in 5, 10-methylenetetrahydrofolate reductase(MTHFR) gene results in a valine...
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Intracardiac Thrombosis Involving All Four Cardiac Chambers after Extracardiac Membranous Oxygenation Associated with MTHFR Mutations

Kim BJ, Song SH, Shin YR, Park HK, Park YH, Shin HJ

A 4-month-old boy diagnosed with acute myocarditis was treated with extracorporeal membrane oxygenation (ECMO). Follow-up echocardiography eight hours after ECMO revealed intracardiac thrombosis involving all four heart chambers. Because of...
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Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote

Lee JY, Kim M

Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous...
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A Case of Cerebellar Hemorrhage Associated with Hyperhomocysteinemia

Hong SC, An JY, Cho SJ, Chung CS, Lee KH, Hong SC, Byun HS

  • KMID: 1812899
  • J Korean Neurol Assoc.
  • 1999 May;17(3):407-411.
Hyperhomocysteinemia has recently been identified as an important risk factor for atherosclerotic vascular disease. Genetic aberrations in methylenetetrahydrofolate reductase (MTHFR) may account for reduced enzyme activity and elevated plasma homocysteine...
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Deep Vein Thrombosis Casused by Congenital Absence of Inferior Vena Cava Combined with Hyperhomocysteinemia Due to C677T Methylenetetrahydrofolate Reductase Homozygos Mutation

Sung GY, Kim KH, Kim JI, Ahn CH, Kim JS, Yu SJ, Lim KW, Won JM, Koh YB, Chang SH

  • KMID: 1941107
  • J Korean Soc Vasc Surg.
  • 2003 Nov;19(2):202-206.
We present a case of suprarenal & infrarenal absence of inferior vena cava combined with hyperhomocysteinemia in a 39-year-old woman who presented with symptoms of deep venous thrombosis. The patient...
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The Relationship between the Methylenetetrahydrofolate Reductase Genotypes and the Methylation Status of the CpG Island Loci, LINE-1 and Alu in Prostate Adenocarcinoma

Kim JH, Cho NY, Kim BH, Kim WY, Kim BS, Moon KC, Kang GH

BACKGROUND: Genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR), in association with the influence of MTHFR upon DNA methylation, may cause differences of the methylation profile of cancer. Thus, we investigated the...
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Association of Hyperhomocysteinemia and MTHFR Genotype in Parkinson's Disease

Yoo JH, Lee WY

  • KMID: 2338499
  • J Korean Geriatr Soc.
  • 2006 Sep;10(3):172-176.
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) deficiency is rare in severe cases but common in mild cases. TT genotype of C677T of MTHFR shows reduced enzyme activity and hyperhomocysteinemia. It has been...
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