Associated Papers
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.
Ruoppolo M et al.
International Journal of Neonatal Screening, 2025
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Holm LL et al.
Human Mutation, 2022
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Catarzi S et al.
Thescientificworldjournal, 2013
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