Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

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

Technical Evaluation of the COBAS EGFR Semiquantitative Index (SQI) for Plasma cfDNA Testing in NSCLC Patients with EGFR Exon 19 Deletions

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

Molecular characterization of advanced non-small cell lung cancer patients by cfDNA analysis: experience from routine laboratory practice

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

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

[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]

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