Mostrando 3 resultados de: 3
Filtros aplicados
Publisher
American Journal of Human Genetics(1)
Clinical Biochemistry(1)
Molecular Nutrition Carbohydrates(1)
Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I
Book PartAbstract: Galactosemia type I is caused by a deficiency of the galactose-1-phosphate uridylyltransferase enzymPalabras claves:Duarte variant, Galactitol, galactose, Galactose-1-phosphate uridylyltransferase, GALACTOSEMIA, Galactosemia treatment, Glycosylation, Misfolding, p.Q188R mutation, Soy productsAutores:Casique L., Cornejo V., M. De Lucca, Marisel De LuccaFuentes:googlescopusEvidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity
ArticleAbstract: Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyPalabras claves:Autores:Cornejo V., Desviat L.R., M. De Lucca, Perez B., Schmidt B., Ugarte M.Fuentes:scopusIndependent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
ArticleAbstract: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multiPalabras claves:Heteroplasmy, MELAS syndrome, Mitochondrial haplogroup, MT-TL1 gene, MtDNA, Venezuelan patientsAutores:Casique L., Domínguez C.L., Florez I., M. De Lucca, Mahfoud A., Pirrone I., Ramirez J.L., Rodríguez D., Rodríguez T.Fuentes:scopus