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Keywords: hyperhomocysteinaemia
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Biochem J (2004) 382 (3): 831–840.
Published: 07 September 2004
.... A severe deficiency of MTHFR results in hyperhomocysteinaemia and homocystinuria. Betaine supplementation has proven effective in ameliorating the biochemical abnormalities and the clinical course in patients with this deficiency. Mice with a complete knockout of MTHFR serve as a good animal model...