Zobrazeno 1 - 10
of 24
pro vyhledávání: '"José Manuel González, de Aledo"'
Autor:
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 3, Pp 100516- (2024)
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels nece
Externí odkaz:
https://doaj.org/article/ed20e2c3123846b6a8afee5fe6b88dba
Autor:
Rodrigo Alfredo Morales Painamil, José Manuel González de Aledo-Castillo, Marta Teresa-Palacio, Ana Argudo-Ramírez, Rosa M. López-Galera, Abraham J. Paredes-Fuentes, Victoria Aldecoa-Bilbao, Miguel Alsina-Casanova
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 2, p 24 (2023)
Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marro
Externí odkaz:
https://doaj.org/article/3a54beb0c0be4a2da619ca7aa707b306
Autor:
José Manuel González de Aledo-Castillo, Samira Serhir-Sgheiri, Neus Calbet-Llopart, Ainara Arcocha, Pedro Jares, Noemí Reguart, Joan Antón Puig-Butillé
Publikováno v:
Diagnostics, Vol 11, Iss 8, p 1319 (2021)
The cobas® EGFR Test provides a semiquantitative index (SQI) that reflects the proportion of mutated versus wild-type copies of the EGFR gene in plasma. The significance of SQI as an indirect measure of the variant allele frequency (VAF) or mutated
Externí odkaz:
https://doaj.org/article/ab9a31a3f42d4c24b6ae8058e5954bbd
Autor:
Leonor, Guiñón, Anna, Soler, Rosa María, López, Sonia, Pajares, José Manuel González, de Aledo, Ana, Argudo-Ramírez, José Luis, Marín, Judit, García-Villoria, Ángeles, Sahuquillo, Luisa, Alvarez
Publikováno v:
Biochemia Medica
Volume 32
Issue 3
Volume 32
Issue 3
IntroductionTo ensure the quality of the new-born screening (NBS), our laboratory reviewed the analytical procedure to detect subjective steps that may represent a risk to the patient. Two subjective activities were identified in the extra-analytical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5522c22bf40a2daaf34937fd14a4659b
https://doi.org/10.11613/bm.2022.030901
https://doi.org/10.11613/bm.2022.030901
Autor:
Joan Antón Puig-Butillé, Iván Victoria, Roxana Reyes, Cristina Sánchez, Noemi Reguart, José Manuel González de Aledo-Castillo, Ana Isabel Martinez-Puchol, Nuria Viñolas, Pedro Jares, Ainara Arcocha, Gabriel Felipe Rodríguez
Publikováno v:
J Thorac Dis
BACKGROUND: Analysis of circulating free DNA (cfDNA) by the real-time PCR cobas(®) EGFR Mutation Test v2 (cobas(®) EGFR Test) is a diagnostic approach used in clinical practice for the characterization of advanced non-small cell lung cancer (NSCLC)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0164184e2d9ef42094168468f9b1d9fc
https://doi.org/10.21037/jtd-20-3142
https://doi.org/10.21037/jtd-20-3142
Autor:
Sonia Pajares, Aleix Navarro-Sastre, Laura Gort, Silvia Meavilla, José Antonio Arranz, Mireia del Toro, Clara Carnicer, M. Santos, Frederic Tort, Antonia Ribes, Judit García-Villoria, Rafael Artuch, José Luis Marín, Camila García-Volpe, Ana Argudo, José Manuel González de Aledo-Castillo, Rosa Fernández, R.M. López, Aida Ormazabal, Angeles Garcia-Cazorla
Publikováno v:
Scientia
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Background Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87accc2a01eb4731e5a89acaf4b7c488
https://hdl.handle.net/11351/6783
https://hdl.handle.net/11351/6783
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:
Laia, Asso Ministral, José Luis, Marín Soria, Rosa María, López Galera, Ana, Argudo Ramírez, José Manuel, González de Aledo Castillo, Blanca, Prats Viedma, Carme, Casas Puig, Judit, García Villoria, Carmen, Cabezas Peña
Publikováno v:
Revista espanola de salud publica. 94
The Neonatal Screening Program in Catalonia from its inception fifty years ago until today, has enabled the early diagnosis and treatment of more than 2,000 newborns. In the last decade, the Program has undergone various extensions regarding its pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::28ed3482d9b1a6336d197defe557568b
https://pubmed.ncbi.nlm.nih.gov/33323919
https://pubmed.ncbi.nlm.nih.gov/33323919
Autor:
Ana, Argudo Ramírez, Andrea, Martín Nalda, José Luis, Marín Soria, Rosa María, López Galera, José Manuel, González de Aledo Castillo, Sonia, Pajares García, Jacques G, Rivière, Mónica, Martínez Gallo, Roger, Colobran, Alba, Parra Martínez, Antonia, Ribes Rubio, Rosa María, Fernández Bardon, Laia, Asso Ministral, Blanca, Prats Viedma, Judit, García Villoria, Pere, Soler Palacín
Publikováno v:
Revista espanola de salud publica. 94
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TREC) in dried blood spot (DBS) samples. Early detection of this condition speeds up t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2af77dbffb018fbb8a17513bd1c53afb
https://pubmed.ncbi.nlm.nih.gov/33323927
https://pubmed.ncbi.nlm.nih.gov/33323927
Autor:
Amanda Solé, Daniel Costa, Ferran Casals, Carlota Rovira, Robert Castelo, Eduard Sabidó, José Luis Marín, José Manuel González de Aledo-Castillo, Teresa Cobo, Alfons Nadal, Núria Bonet
Publikováno v:
The Febs Journal
The exposure to a fetal inflammatory response (FIR) is often followed by a postnatal systemic inflammation, increasing the risk of perinatal brain injury. We profiled the transcriptome and proteome in neonatal dried blood spots from extremely preterm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb98a48324cc944f0d48b53943cdf9e
https://pubmed.ncbi.nlm.nih.gov/33006196
https://pubmed.ncbi.nlm.nih.gov/33006196