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HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Known as: METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, MTHFR DEFICIENCY 
 
National Institutes of Health

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11 relations
5,10-Methylenetetrahydrofolate reductase deficiencyAbnormal behaviorAbnormal coordinationAutosomal recessive inheritance
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Papers overview

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2016
2016
Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism.
OBJECTIVE To describe an assay of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF) of children, to determine… Expand
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2015
2015
A case of severe methylenetetrahydrofolate reductase deficiency presenting as neonatal encephalopathy, seizures, microcephaly and central hypoventilation
Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the remethylation of homocysteine to methionine. S… Expand
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2009
2009
Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency.
Hyperhomocysteinemia (HHcy) can result from genetic or nutritional disturbances in folate metabolism. The most common genetic… Expand
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2008
2008
[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency].
The patient had suffered from left hemiparesis at the age of thirteen months, and acute ischemic stroke of unknown etiology had… Expand
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2002
2002
An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait
Methylenetetrahydrofolate reductase deficiency (MTHFR) is a rare autosomal recessive disorder. There have been 68 cases reported… Expand
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2001
2001
Early seizures in homocystinuria with methylenetetrahydrofolate reductase deficiency
 
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1992
1992
Increased neurotoxicity of arsenic in methylenetetrahydrofolate reductase deficiency
A 16-year-old girl from Surinam presented with mental deterioration and severe paraparesis with areflexia and bilateral Babinski… Expand
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1989
1989
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented… Expand
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1983
1983
Prenatal diagnosis for methylenetetrahydrofolate reductase deficiency.
 
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1977
1977
Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency.
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical… Expand
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