Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl

3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2...

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Detalles Bibliográficos
Autores principales: Cozzolino, Carla, Villani, Guglielmo RD, Frisso, Giulia, Scolamiero, Emanuela, Albano, Lucia, Gallo, Giovanna, Romanelli, Roberta, Ruoppolo, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2018
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082241/
https://www.ncbi.nlm.nih.gov/pubmed/29767664
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0093

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082241/
https://www.ncbi.nlm.nih.gov/pubmed/29767664
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0093

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