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Galactose oxidation using (13)C in healthy and galactosemic children

Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1-(13)C-galactose) allows the determination of ga...

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Detalles Bibliográficos
Autores principales: Resende-Campanholi, D.R., Porta, G., Ferrioli, E., Pfrimer, K., Ciampo, L.A. Del, Junior, J.S. Camelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Divulgação Científica 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381950/
https://www.ncbi.nlm.nih.gov/pubmed/25608239
http://dx.doi.org/10.1590/1414-431X20144362