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Heart Defects

Scientists at Mount Sinai School of Medicine, Division of Pediatric Cardiology publish research in heart defects

Published in Genetics and Environmental Law Weekly, February 20th, 2010

New investigation results, 'High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria,' are detailed in a study published in Molecular Genetics and Metabolism. "To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid and homocysteine. A retrospective observational study was conducted investigating 10 patients with cblC ranging in age from 2 weeks to 24 years (mean 4.4 years ±7.5 years, median 0.6 years)," scientists writing in the...

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