Title : Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

Pub. Date : 2009 Dec

PMID : 19914430






1 Functional Relationships(s)
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1 The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). Niacinamide Cbl proto-oncogene C Homo sapiens