Mostrando 10 resultados de: 16
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Clinica Chimica Acta(2)
Clinical Biochemistry(2)
Human Mutation(2)
American Journal of Human Genetics(1)
Antimicrobial Agents and Chemotherapy(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:scopusCharacterization 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
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:scopusGlucocerebrosidase mutations are also found in subjects with early-onset Parkinsonism from Venezuela [1]
OtherAbstract:Palabras claves:Autores:Eblan M.J., Gallardo M., Hanson M., Lwin A., M. De Lucca, Nguyen J., Sidransky E., Singleton A., Weiser R., Ziegler S.G.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:googlescopusImproving phenylketonuria genotyping by screening for the IVS4 + 5g > t mutation in the PAH gene
OtherAbstract:Palabras claves:Autores:Araujo K., Arias I., Casique L., M. De Lucca, Merzon R.M.Fuentes:scopus