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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hindawi Publishing Corporation 2013
Konular:
Research Article
Online Erişim: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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