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Page 1
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Among authors: de los santos m. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Castells AA, Gueraldi D, Balada R, Tristán-Noguero A, Cortès-Saladelafont E, Ramos F, Meavilla S, De Los Santos M, Garcia-Volpe C, Colomé R, Couce ML, Sierra C, Ormazábal A, Batllori M, Artuch R, Armstrong J, Alcántara S, Garcia-Cazorla À. Castells AA, et al. Among authors: de los santos m. Sci Rep. 2019 Jun 24;9(1):9128. doi: 10.1038/s41598-019-45674-2. Sci Rep. 2019. PMID: 31235756 Free PMC article.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: de aledo castillo jmg, de los santos mm. Orphanet J Rare Dis. 2021 Apr 30;16(1):195. doi: 10.1186/s13023-021-01784-7. Orphanet J Rare Dis. 2021. PMID: 33931066 Free PMC article.
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Toro MD, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Orphanet J Rare Dis. 2023 Jul 13;18(1):188. doi: 10.1186/s13023-023-02793-4. Orphanet J Rare Dis. 2023. PMID: 37443087 Free PMC article. No abstract available.
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.
Minguez B, de Los Santos M, Garcia-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva C, Arias A, Rodriguez-Gonzalez H, Yubero D, Tondo M, Santos-Ocaña C, Meavilla S, Artuch R. Minguez B, et al. Among authors: de los santos m. Antioxidants (Basel). 2024 Aug 9;13(8):966. doi: 10.3390/antiox13080966. Antioxidants (Basel). 2024. PMID: 39199213 Free PMC article.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038 Free PMC article.
[50 years of the Neonatal Screening Program in Catalonia.].
Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols Roig M, Costa Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol Plana J, García Cazorla Á, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch Iriberri R, García-Volpe C, de Los Santos MM, Sierra March C, Ruiz Hernández CJ, Meavilla Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B, Cabezas Peña C. Marín Soria JL, et al. Among authors: de los santos mm. Rev Esp Salud Publica. 2020 Dec 16;94:e202012177. Rev Esp Salud Publica. 2020. PMID: 33323926 Free PMC article. Spanish.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: de las heras montero j, de los santos m. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
160 results