Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

• Hoofdauteurs: Sinziana Stanescu (Auteur), Amaya Belanger-Quintana (Auteur), Carlos Alcalde Martin (Auteur), Celia Pérez-Cerdá Silvestre (Auteur), Begoña Merinero Cortés (Auteur), Belen Gonzalez Pérez (Auteur), Carmen Fernández García-Abril (Auteur), Francisco Arrieta Blanco (Auteur), Esperanza Palacios Valverde (Auteur), Mercedes Martínez-Pardo Casanova (Auteur)
• Formaat: Boek
• Gepubliceerd in: Hindawi Limited, 2020-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreductase. The clinical picture ranges from a severe neo...