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Original Article

Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria

Eun Hye Lee, Jung Min Ko, Jae-Min Kim, Han-Wook Yoo

Clin Exp Pediatr. 2008;51(9):964-970. Published online September 15, 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes....

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