Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, seizures, brain damage, or even death. Biochemical acylcarnitines data obtained through newborn screening...

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Autori principali: Catarzi, Serena, Caciotti, Anna, Thusberg, Janita, Tonin, Rodolfo, Malvagia, Sabrina, la Marca, Giancarlo, Pasquini, Elisabetta, Cavicchi, Catia, Ferri, Lorenzo, Donati, Maria A., Baronio, Federico, Guerrini, Renzo, Mooney, Sean D., Morrone, Amelia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2013
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3833120/
https://ncbi.nlm.nih.gov/pubmed/24294134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/625824
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