221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

@article{Bentler2016221NN,
  title={221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.},
  author={Kristi Bentler and Shaohui Zhai and Sara A Elsbecker and Georgianne L. Arnold and Barbara K. Burton and Jerry Vockley and Cynthia A. Cameron and Sally J. Hiner and Mathew J Edick and Susan A Berry},
  journal={Molecular genetics and metabolism},
  year={2016},
  volume={119 1-2},
  pages={
          75-82
        }
}
INTRODUCTION There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. METHODS Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism - Information System (IBEM-IS), a long term follow-up database of the Inborn… CONTINUE READING
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