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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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5,10-Methylenetetrahydrofolate reductase deficiencyAbnormal behaviorAbnormal coordinationAutosomal recessive inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2003
2003
Severe methylenetetrahydrofolate reductase deficiency, methionine synthase, and nitrous oxide--a cautionary tale.
In this issue of the Journal, Selzer et al. (pages 45–50) describe the unexpected neurologic deterioration and death of an infant… 
2001
2001
Early seizures in homocystinuria with methylenetetrahydrofolate reductase deficiency
2000
2000
Vascular Pathology of Hyperhomocysteinemia
The first descriptions of vascular pathology in patients with hyperhomocysteinemia caused by cystathionine synthase deficiency… 
1998
1998
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene
Homocystinuria (methylenetetrahydrofolate reductase deÐciency) and mutation of factor V gene P. Goyette1, D. Rosenblatt1,2 and R… 
1994
1994
Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy
SummaryA 16-year-old Japanese girl with 5,10-methylenetetrahydrofolate reductase deficiency showed peripheral neuropathy. There… 
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