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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833120/
https://www.ncbi.nlm.nih.gov/pubmed/24294134
http://dx.doi.org/10.1155/2013/625824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833120/
https://www.ncbi.nlm.nih.gov/pubmed/24294134
http://dx.doi.org/10.1155/2013/625824

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