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Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.

Clinical biochemistry - 1 Oct 2012

Thodi Georgia, Georgiou Vassiliki, Molou Elina, Loukas Yannis L, Dotsikas Yannis, Biti Sofia, Papadopoulos Konstantinos, Doulgerakis Emmanuel

Abstract excerpt

OBJECTIVES: The purpose of the current study was to screen newborns in Greece and to identify the responsible mutations for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). DESIGN AND METHODS: 47.812 neonates were screened for the potential presence of MCADD in Greece, via a LC-MS/MS protocol. The "suspected" samples were subjected to genetic testing via PCR-RFLP and sequencing of the coding region of the...

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Source

Identifiers

PMID: 22683754
DOI: 10.1016/j.clinbiochem.2012.05.030

Genes

ACADM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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