Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
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DOI: 10.3389/fgene.2018.00726
Abstract: Background: Methylmalonic acidemia (MMA) incidence was evaluated based on newborn screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical and molecular characteristics of patients with MMA harboring MMACHC and MUT mutations… read more here.
Keywords: mma; screening methylmalonic; acidemia chinese; methylmalonic acidemia ... See more keywords