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Article

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Molecular genetics and metabolism - 1 May 2013

Schiff Manuel, Mohsen Al-Walid, Karunanidhi Anuradha, McCracken Elizabeth, Yeasted Renita, Vockley Jerry

Abstract excerpt

BACKGROUND: Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is diagnosed in the US through newborn screening (NBS). NBS often unequivocally identifies affected individuals, but a growing number of variant patterns can represent mild disease or heterozygous carriers. AIMS: To evaluate the validity of standard diagnostic procedures for VLCADD by using functional in vitro tools. METHODS: We...

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Source

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Identifiers

PMID: 23480858
DOI: 10.1016/j.ymgme.2013.02.002
PMCID: PMC3628282

Genes

ACADVL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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