Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Carmen Delgado Pecellín"'
Autor:
David Núñez-Jurado, Salvador Payán-Pernía, Ana I. Álvarez-Ríos, Margarita Jiménez-Jambrina, Inmaculada Concepcion Pérez-De-Soto, Antonio José Palma-Vallellano, Rocío Zapata-Bautista, José Carlos Hernández-Castellet, Mari Paz Garrastazul-Sánchez, Víctor Arqueros-Martínez, María del Mar Urbano-Ramos, Mohamed Abdelkader-Maanan, José Raúl García-Lozano, Carmen Delgado-Pecellín
Publikováno v:
American Journal of Perinatology.
The aim of this study was to present the results obtained in the Newborn Screening Program (NSP) for sickle cell disease (SCD) in western Andalusia and the autonomous city of Ceuta in the first 3 years of implementation, and to describe the discrepan
Autor:
Rocío Escudero‐Ávila, Carmen Delgado Pecellín, María José Moreno Valera, Laura Carrasco Hernández, María Esther Quintana Gallego, Isabel Delgado Pecellín
Publikováno v:
Pediatric Pulmonology.
Cystic fibrosis (CF) is the most common autosomal recessive disorder in the Caucasian population, with an incidence of 1:5000 live births. In 2011, the screening of CF was implemented in the Andalusian Public Health newborn screening program by using
Autor:
Ana Isabel Álvarez-Ríos, Carmen Delgado-Pecellín, David Núñez-Jurado, Enrique Melguizo-Madrid, Ricardo Rubio-Sánchez
Publikováno v:
American journal of perinatology.
This study aimed to identify extremely premature infants (31 weeks of gestation and/or1,500 g) affected by congenital hypothyroidism (CH) with delayed elevation of thyrotropin (TSH) and to evaluate the detection strategy for this pathology in our ref
Autor:
Vanesa Escribano Hernández, Dolores Bóveda Fontán, Teresa Rodríguez, Raquel Yahyaoui Macías, Olaia Rodríguez Fraga, Hugo Rocha, Rosa María López Galera, José Luis Marín Soria, Dolores Rausell Felix, María Magdalena Vila Vidal, Yolanda González Irazabal, José María Egea Mellado, Carmen Delgado Pecellín, Daisy E. Castiñeiras Ramos
Publikováno v:
Revista del Laboratorio Clínico. 12:189-195
Resumen La espectrometria de masas en tandem (MS-MS) ha permitido ampliar el alcance del cribado neonatal. Eso hace mas complicado determinar el momento mas adecuado para la toma de muestra, sobre todo en recien nacidos prematuros y/o bajo peso y/o i
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
Autor:
Ana Isabel Álvarez Ríos, Carmen Delgado Pecellín, Estela Pérez Ruiz, Irene Marcos Luque, María José Moreno Valera, Laura Carrasco Hernández, Isabel Delgado Pecellín, Pilar Caro Aguilera, María Esther Quintana Gallego, Raquel Yahyaoui Macías
Publikováno v:
Archivos de Bronconeumología (English Edition). 54:551-558
Introduction Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that
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
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
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14062
Autor:
Carmen, Delgado-Pecellín, Isabel, Álvarez Ríos, María Del Amor, Bueno Delgado, Margarita María, Jiménez Jambrina, María Esther, Quintana Gallego, Pedro, Ruiz Salas, Irene, Marcos Luque, Enrique, Melguizo Madrid
Publikováno v:
Revista espanola de salud publica. 94
The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screen
Autor:
Josefa Mora Vallellano, Isabel Delgado Pecellín, Carmen Delgado Pecellín, Esther Quintana Gallego, José Luis López-Campos
Publikováno v:
Bone. 147
Background Cystic fibrosis (CF) bone disease (CFBD) has attracted considerable recent interest from researchers, although several aspects of CFBD pathophysiology remain poorly understood. The objective of this research was to investigate CFBD in chil
Autor:
Isabel Delgado Pecellín, María José Moreno Valera, Ana Isabel Álvarez Ríos, Raquel Yahyaoui Macías, Estela Pérez Ruiz, Carmen Delgado Pecellín, María Esther Quintana Gallego, Irene Marcos Luque, Laura Carrasco Hernández, Pilar Caro Aguilera
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Resumen Introduccion Andalucia dispone de screening neonatal de fibrosis quistica (SNFQ) desde mayo 2011, basado en doble determinacion de tripsinogeno inmunorreactivo ([TIR] [TIR1/TIR2]). Si el screening es positivo realizamos un test del sudor y si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bc474e0469bc7eb173978d5a97d02b
http://hdl.handle.net/10261/184715
http://hdl.handle.net/10261/184715