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Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not included in the newborn screening (NBS) panels but it...

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Principais autores: Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2024-07-01
coleção:International Journal of Neonatal Screening
Assuntos:
methylmalonyl CoA epimerase deficiency
newborn screening
case report
Acesso em linha:https://www.mdpi.com/2409-515X/10/3/53
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