Browsing by Subject "ENP6"
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Genomic and metabolic investigation of an unknown inborn error of leucine metabolism mimicking MCC deficiency
(North-West University, 2011)This study revolves around a family in which 4 male members have metabolic profiles similar to that of atypical 3–methylcrotonyl–CoA carboxylase (MCC) deficiency, an inborn error of leucine catabolism. This profile consists ...