Zobrazeno 1 - 3
of 3
pro vyhledávání: '"María Bueno-Delgado"'
Autor:
Inmaculada García-Jiménez, Raquel Yahyaoui, Ana I. Vega, Isidro Vitoria, Amaya Belanger-Quintana, Carmen Delgado-Pecellín, Begoña Merinero, Celia Pérez-Cerdá, Elvira Cañedo, M.L. Couce, María Bueno-Delgado, Magdalena Ugarte, Rosa Navarrete, María Teresa García-Silva, Pilar Quijada-Fraile, María Dolores Rausell, Belén Pérez, C. Pedrón-Giner, Lourdes R. Desviat, Fátima Leal, Sinziana Stanescu, Oscar García-Campos, Ana Moráis-López, Elena Balmaseda, Elena Martín-Hernández, Ana Bergua, Inmaculada Vives, Pilar Rodríguez-Pombo
Publikováno v:
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc70444607016cbb3a351a709b24af6
https://doi.org/10.1038/s41431-018-0330-0
https://doi.org/10.1038/s41431-018-0330-0
Autor:
Domingo, González-Lamuño Leguina, Mª Dolores, Bóveda Fontán, María, Bueno Delgado, Laura, Gort Mas, María, Unceta Suárez, Montserrat, Morales Conejo
Publikováno v:
Revista espanola de salud publica. 95
Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or significantly reduce morbidity and/or mortality. Many of the conditions included in these programs a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a87e540e32ddfdc5ee6feaef30bef5ed
https://pubmed.ncbi.nlm.nih.gov/33496277
https://pubmed.ncbi.nlm.nih.gov/33496277
Autor:
Ignacio, Jiménez Varo, María, Bueno Delgado, Elena, Dios Fuentes, Carmen, Delgado Pecellin, Antonio, González Meneses, Alfonso, Soto Moreno, Eva, Venegas Moreno
Publikováno v:
Nutricion hospitalaria. 31(4)
Combined methylmalonic acidemia and homocystinuria is an inborn error of metabolism of vitamin B12 or cobalamin. It's a rare autosomal recessive disease in which there are several variants depending on the pathogenesis of the metabolic disorder (cblC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ec68794467fef206ec5cab63f80970ae
https://pubmed.ncbi.nlm.nih.gov/25795986
https://pubmed.ncbi.nlm.nih.gov/25795986