Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

BACKGROUND—Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis.
OBJECTIVE—To inve...

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Autores principales: Wilson, C., Champion, M., Collins, J., Clayton, P., Leonard, J.
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 1999
Materias:
Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1717923/
https://ncbi.nlm.nih.gov/pubmed/10208954
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