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Human Mutation(2)
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Human mutation(1)
Characterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: Identification of one novel mutation in exon 6
ArticleAbstract: This study describes for the first time the cystathionine β-synthase (CBS) gene mutations in VenezuePalabras claves:Cystathionine β-synthase, Homocystinuria, Mutation analysis, Single-strand conformational polymorphism, VENEZUELAAutores:Casique L., M. De LuccaFuentes:scopusClinical 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:googlescopusAmiodarone and miltefosine act synergistically against Leishmania mexicana and can induce parasitological cure in a murine model of cutaneous leishmaniasis
ArticleAbstract: Leishmaniasis is parasitic disease that is an important problem of public health worldwide. IntramusPalabras claves:Autores:Benaím G., M. De Lucca, Martínez J.C., Mendoza-León A., Payares G., Serrano-Martín X.Fuentes:scopusEvidence 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:scopusMutation analysis of phenylketonuria in South Brazil
ArticleAbstract:Palabras claves:Autores:Desviat L.R., Giugliani R., Loghin-Grosso N., M. De Lucca, Marisel De Lucca, Perez B., Pires R.F., Schmidt B., Ugarte M.Fuentes:googlescopusMolecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
ArticleAbstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylasePalabras claves:Expression analysis, mutation, PKUAutores:Desviat L.R., M. De Lucca, Perez B., Ugarte M.Fuentes:scopusMolecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
ArticleAbstract: Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gPalabras claves:Autores:Cornejo V., Desviat L.R., M. De Lucca, Perez B., Raimann E., Ugarte M.Fuentes:scopusPhenylketonuria of late diagnosis and associated mutations in an Ecuadorian family
ArticleAbstract: Phenylketonuria is an inborn error of metabolism due to mutations on the phenylalanine hydroxylase gPalabras claves:Mutation R252W, Phenylalanine hydroxylase, Phenylketonuria, Physical TherapyAutores:Carmen Barba-Guzmán, M. De Lucca, María Augusta Latta, Marisel De Lucca, Verónica De Los Ángeles Cobo SevillaFuentes:googlescopus