Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jose Manuel, González de Aledo"'
Autor:
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/f7fdb958d90148a694eda2e93c480bad
Autor:
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract 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 critica
Externí odkaz:
https://doaj.org/article/61104677d41940e4bdc41c1f07d3e805
Autor:
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 46 (2021)
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Se
Externí odkaz:
https://doaj.org/article/d458011f732048d1b0e9eee388c1efee
Autor:
Jose Luis, Marín Soria, Rosa Mª, López Galera, Ana, Argudo Ramírez, Jose Manuel, González de Aledo, Sonia, Pajares García, Aleix, Navarro Sastre, Jose Mª, Hernandez Pérez, Antonia, Ribes Rubio, Laura, Gort Mas, Judit, García Villoria, Silvia, Gartner Tizano, Sandra, Rovira Amigo, Oscar, Asensio de la Cruz, Miguel, García González, María, Cols Roig, Jordi, Costa Colomer, Celia, Bádenas Orquin, Diego, Yeste Fernández, Ariadna, Campos Martorell, María, Clemente León, Eduardo, Mogas Viñals, Roser, Ferrer Costa, Marina, Giralt Arnaiz, Jaume, Campistol Plana, Ángeles, García Cazorla, David, Beneitez Pastor, Ana, Ortuño Cabrero, Adoración, Blanco Álvarez, Barbara, Tazón Vega, Gael, Roué, Pablo, Velasco Puyo, Thais, Murciano Carrillo, Laura, Murillo Sanjuan, Cristina, Díaz de Heredia Rubio, Mª Del Mar, Mañú Pereira, Josep Lluis, Vives Corrons, José Antonio, Arranz Amo, Clara, Carnicer Cáceres, Mireia, Del Toro Riera, Aida, Ormazábal Herrero, Rafael, Artuch Iriberri, Camila, García-Volpe, Mariela Mercedes, de Los Santos, Cristina, Sierra March, Carlos José, Ruiz Hernández, Silvia Mª, Meavilla Olivas, Andrea, Martín Nalda, Jacques G, Rivière, Alba, Parra Martínez, Pere, Soler Palacín, Mónica, Martínez Gallo, Roger, Colobran, Teresa, Casals Senent, Mercè, Armelles Sebastia, Mª José, Vidal Benede, Mireia, Jané Checa, Rosa Mª, Fernández Bordón, Laia, Asso Ministral, Blanca, Prats Viedma, Carmen, Cabezas Peña
Publikováno v:
Revista espanola de salud publica. 94
The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e128fad52a8bcdc589a3f5de8c17c26
https://pubmed.ncbi.nlm.nih.gov/33323926
https://pubmed.ncbi.nlm.nih.gov/33323926
Autor:
Sonia, Pajares García, Rosa Mª, López Galera, Jose Luis, Marín Soria, Ana, Argudo Ramírez, Jose Manuel, González de Aledo-Castillo, Antonia, Ribes Rubió, Blanca, Prats Viedma, Laia, Asso Ministral, Judit, García-Villoria
Publikováno v:
Revista espanola de salud publica. 94
Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a9a66e884b7ffa1ef597c1b7e9ef1a3f
https://pubmed.ncbi.nlm.nih.gov/33323922
https://pubmed.ncbi.nlm.nih.gov/33323922
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Akademický článek
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