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A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
ArticleAbstract: Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism causedPalabras claves:Ecuadorian GALT mutation, GALACTOSEMIA, HRM, In silico study, Inborn error of galactose metabolism, Splicing mutationAutores:C. Barba, Casique L., M. De Lucca, Marisel De LuccaFuentes:googlescopusCharacterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6
OtherAbstract: This study describes for the first time the cystathionine β-synthase (CBS) gene mutations in VenezuePalabras claves:Autores:Marisel De LuccaFuentes:googleClinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria
ArticleAbstract: Introduction. Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1Palabras claves:Delayed diagnosis, Genotype/phenotype, Neonatal study, PKU, Psychomotor retardationAutores:Araujo K., Arias I., Bottaro M., Casique L., Colmenares A.R., Domínguez C.L., López M.E., M. De Lucca, Mahfoud A., Marisel De Lucca, Merzon R.M., Rodríguez T.Fuentes:googlescopusEl 1, 2, 3 de la experimentación con animales de laboratorio
OtherAbstract: El lento desarrollo científico experimentado en América Latina en las últimas décadas ha retrasado lPalabras claves:Autores:Marisel De LuccaFuentes:googleGlucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:googleHallazgos clínicos y espectro mutacional en pacientes venezolanos con diagnóstico tardío de fenilcetonuria
OtherAbstract: Introducción. En 1963 comenzó el cribado neonatal masivo de fenilcetonuria (PKU) en países desarrollPalabras claves:Autores:Marisel De LuccaFuentes:googleHigh prevalence of a Venezuelan PKU mutation
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:googleImproving phenylketonuria genotyping by screening for the IVS4+ 5g> t mutation in the PAH gene
OtherAbstract: Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene × ClosePalabras claves:Autores:Marisel De LuccaFuentes:googleEvidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
OtherAbstract: Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyPalabras claves:Autores:Marisel De LuccaFuentes:googleMolecular basis of phenylketonuria in Venezuela: presence of two novel null mutations
OtherAbstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylasePalabras claves:Autores:Marisel De LuccaFuentes:google