Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

Autor: Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner

Publikováno v: JIMD Reports, Vol 63, Iss 2, Pp 146-161 (2022)

Abstract We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarni

Externí odkaz: https://doaj.org/article/1b8b5ea5967a4cc4a9736f613e6e8269

Beginnings, evolution and current situation of the Newborn Screening Programs in Spain

Autor: José Luis, Marín Soria, José Manuel, González de Aledo Castillo, Ana, Argudo Ramírez, Rosa Mª, López Galera, Sonia, Pajares García, Antonia, Ribes Rubió, Judith, García Villoria, Raquel, Yahyaoui Macías, Ana Isabel, Álvarez Ríos, Enrique, Melguizo Madrid, Yolanda, González Irazabal, Guillermo, Hernández de Abajo, Belén, Prieto García, Leire, Cardo González, Eduardo, Martínez Morillo, Juan, Robles Bauza, Josep Miquel, Bauçà Rosselló, Gerardo, Pérez Esteban, Felícitas, Díaz-Flores Estevez, Eva, Pérez Mangas, Verónica, Cañadas Garzó, Ana Cristina, Muñoz Boyero, Pedro A, Redondo Cardeña, Mª Josefa, Bueno Llarena, Javier, Sánchez Alarcon, Daisy, Castiñeiras Ramos, José Ángel, Cocho de Juan, Cristóbal, Colón Mejeras, Paula, Blanco Soto, Ana, Cambra Conejero, Miguel L, Fernández Ruano, Alicia, Ortiz Temprado, José Mª, Egea Mellado, Inmaculada, González Gallego, Mª Jesús, Juan Fita, Mercedes, Espada Saenz-Torre, Dolores, Rausell Felix, Jose Vicente, Marcos Tomás, Sandra, Ruiz Aja, Carmen, Delgado Pecellín, Mª Dolores, Bóveda Fontán

Publikováno v: REVISTA ESPANOLA DE SALUD PUBLICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab8eb8e6609c1db28135085160853f2e
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14062