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Methylcoenzyme A Mutase Deficiency (MMCOA) Combined With Homocystinuria
Hemocystinuria MMCOA G
2009/12/25
Background: The combined MMCOA deficiency and Hemocystinuria results from defect in cb1c & cb1d & cb1F genome. Until now only 100 cases of this disease has been reported. Most of them with cb1c defici...
Consideration of betaine and one-carbon sources of N5-methyltetrahydrofolate for use in homocystinuria and neural tube defects1,2
Betaine methyltetrahydrofolate homocystinuria neural tube defects
2008/12/12
A major focus in attempts to ameliorate homocystinuria and neural tube defects is supplementation of the diet with B vitamins. The metabolic defect in these cases may be due in part to a deficiency of...