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Characterization 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:googleCharacterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins
ArticleAbstract: Cystathionine β-synthase (CBS) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes thePalabras claves:Cystathionine beta-synthase, Homocystinuria, immunocytochemistry, Protein misfoldingAutores:Banerjee R., Casique L., Kabil O., M. De Lucca, Marisel De Lucca, Martínez J.C.Fuentes:googlescopusClinical 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:googlescopusA 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:googlescopusAlterations 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:googlescopusAmiodarone and Miltefosine Act Synergistically against Leishmania mexicana and Can Induce Parasitological Cure in a Murine Model of Cutaneous Leishmaniasis
OtherAbstract: Leishmaniasis is parasitic disease that is an important problem of public health worldwide. IntramusPalabras claves:Autores:Marisel De LuccaFuentes:googleDescarte neonatal (" screening") de hipotiroidismo congenito primario e hiperfenilalaninemias
OtherAbstract: La aplicación de pruebas de selección masiva (screening), a muestras de sangre y orina obtenidas y aPalabras 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:googleFenilcetonuria de diagnóstico tardío y mutaciones asociadas en una familia ecuatoriana
OtherAbstract: La fenilcetonuria es un error innato del metabolismo, producido por mutaciones en el gen de la fenilPalabras 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:google