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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: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: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
OtherAbstract: Leishmaniasis is parasitic disease that is an important problem of public health worldwide. IntramusPalabras 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:googleMutation 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:googlescopusHigh 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:googleMolecular characterization of phenylalanine hydroxylase deficiency in Chile
OtherAbstract: Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gPalabras claves:Autores:Marisel De LuccaFuentes:googlePhenylketonuria 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