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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

Related topics

Related topics

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

Semantic Scholar uses AI to extract papers important to this topic.
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
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
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
2001
2001
Early seizures in homocystinuria with methylenetetrahydrofolate reductase deficiency
 
Highly Cited
1992
Highly Cited
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
Highly Cited
1989
Highly Cited
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
1983
1983
Prenatal diagnosis for methylenetetrahydrofolate reductase deficiency.
 
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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