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Article

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

Molecular genetics and metabolism - 1 Aug 2016

Evans Maureen, Andresen Brage S, Nation Judy, Boneh Avihu

Abstract excerpt

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10-15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge...

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Source

Identifiers

PMID: 27246109
DOI: 10.1016/j.ymgme.2016.05.012

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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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