Mostrando 5 resultados de: 5
Subtipo de publicación
Article(5)
Área temáticas
Farmacología y terapéutica(4)
Anatomía humana, citología, histología(2)
Enfermedades(2)
Fisiología humana(2)
Cirugía y especialidades médicas afines(1)
Objetivos de Desarrollo Sostenible
ODS 3: Salud y bienestar(5)
ODS 10: Reducción de las desigualdades(4)
ODS 2: Hambre cero(1)
Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population
ArticleAbstract: BACKGROUND AND OBJECTIVE: Studies on different populations have shown a great variability of the frePalabras claves:1298A-C MTHFR, 66A-G MTRR, 677C-T MTHFR, Down syndrome, Frequencies, Genotypes, One carbone methabolism, polymorphismsAutores:Aparicio P., Arroyo I., Barcia J.M., Bermejo E., Beseler B., Blanco M., Canduela V., Castro M., Centeno F., Climent S., De Azúa Brea B., Desviat L.R., Félix V., Fernández E., Galán E., García A., Garcia M.J., Garijo C., Gomar J.L., Lara A., Leal F., Lertxundi M.M., López J.A., López S., Mansilla E., Marco J.J., Martín F., Martínez A., Martínez M., Martínez M.N., Martínez S., Martínez-Fernández M.L., Martínez-Frías M.L., Mousallem A.G., Nieto C., Paisán L., Peñas A., Perez B., Puig I., Riano I., Rodríguez L., Rodríguez-Pinilla E., Sánchez C., Sanchis A., Suárez M.E., Suay M., Tapia J.M., Ugarte M., Washington Stalin García CuentaFuentes: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:scopusMolecular 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: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:googlescopus