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Article

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

Molecular genetics and metabolism - 1 Sept 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 27477829
DOI: 10.1016/j.ymgme.2016.07.002
PMCID: PMC5031545

Genes

ACADM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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