221 Newborn-Screened Neonates with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Findings from the Inborn Errors of Metabolism Collaborative

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...

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Pubblicato in:Mol Genet Metab
Autori principali: Bentler, Kristi, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Vockley, Jerry, Cameron, Cynthia A., Hiner, Sally J., Edick, Mathew J., Berry, Susan A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5031545/
https://ncbi.nlm.nih.gov/pubmed/27477829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.07.002
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