Mostrando 10 resultados de: 20
Publisher
Elsevier(2)
Universidad del Zulia(2)
Wiley Subscription Services, Inc., A Wiley Company(2)
Academic Press(1)
American Society for Microbiology(1)
Área temáticas
Enfermedades(19)
Farmacología y terapéutica(11)
Bioquímica(5)
Fisiología humana(5)
Fisiología y materias afines(5)
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: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: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:googleEffect of the S349L PKU mutation on the folding, stability and activity of the PAH protein
OtherAbstract:Palabras 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:googleIdentificacion de una nueva mutacion en el exon 1 del gen fenilalanina hidroxilasa (pah).
OtherAbstract: La Fenilcetonuria clásica (PKU, MIM# 261600) comprende un error innato del metabolismo causado por lPalabras claves:Autores:Marisel De LuccaFuentes:google