Methylmalonic aciduria (cblF): Case repo
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Waggoner, D.J.; Ueda, K.; Mantia, C.; Dowton, S.B.
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Article
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1998
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John Wiley and Sons
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English
β 19 KB
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Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with cblF complementation group that is associated with an elevation of both methylmalonic acid and homoc