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- The OMMBID Blog » archive for June, 2008
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Mefolinate (5-methyltetrahydrofolate) as a treatment of severe MTHFR deficiency
- June 29th, 2008
Li, D. et al. Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency. Journal of Inherited Metabolic Disease Volume 31, Number 3 / June, 2008
In a mouse model of severe MTHFR deficiency, Mefolinate administration to the mother improved survival and cerebellar morphology in the pups. This agent could potentially be used eventually in clinical trials for the rare patients with severe MTHFR deficiency.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
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MMBID 8e Archive Chapter 191 - Cystinuria
- June 26th, 2008
Download a PDF of the seminal chapter from MMBID 8e.
Click here to access the most up-to-date version of Chapter 191 on OMMBID.
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