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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:googlescopusIndependent 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