Article ID Journal Published Year Pages File Type
2000081 Molecular Genetics and Metabolism 2007 4 Pages PDF
Abstract
Increased homocysteine concentrations in CBS gene mutation carriers are associated with reduced concentrations of folic acid and vitamin B12 in blood. In view of the adverse effects of mild hyperhomocysteinemia, routine testing of vitamin status in parents of homocystinuria patients may be warranted. The causal relationship and pathophysiological consequences are uncertain; it is likely that CBS gene mutation carriers need higher doses of dietary vitamins.
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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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