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Page 1
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Among authors: bueno delgado m. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B. Navarrete R, et al. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626930 Free PMC article.
[Results of the neonatal screening on Western Andalusia after a decade of experience.].
Delgado-Pecellín C, Álvarez Ríos I, Bueno Delgado MDA, Jiménez Jambrina MM, Quintana Gallego ME, Ruiz Salas P, Marcos Luque I, Melguizo Madrid E. Delgado-Pecellín C, et al. Among authors: bueno delgado mda. Rev Esp Salud Publica. 2020 Dec 16;94:e202012174. Rev Esp Salud Publica. 2020. PMID: 33323920 Free article. Spanish.
[Combined methylmalonic acidemia and homocystinuria; a case report].
Jiménez Varo I, Bueno Delgado M, Dios Fuentes E, Delgado Pecellin C, González Meneses A, Soto Moreno A, Venegas Moreno E. Jiménez Varo I, et al. Nutr Hosp. 2015 Apr 1;31(4):1885-8. doi: 10.3305/nh.2015.31.4.8544. Nutr Hosp. 2015. PMID: 25795986 Free article. Spanish.
[The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).].
González-Lamuño Leguina D, Bóveda Fontán MD, Bueno Delgado M, Gort Mas L, Unceta Suárez M, Morales Conejo M. González-Lamuño Leguina D, et al. Among authors: bueno delgado m. Rev Esp Salud Publica. 2021 Jan 26;95:e202101021. Rev Esp Salud Publica. 2021. PMID: 33496277 Free article. Spanish.
Technology adoption review for ageing well: analysis of technical solutions.
Gambo I, Bueno-Delgado MV, Mooses K, Melero Muñoz FJ, Zviel-Girshin R, Andrushevich A, Mrissa M, Landowska A, Taveter K. Gambo I, et al. Among authors: bueno delgado mv. Front Public Health. 2023 Sep 20;11:1169192. doi: 10.3389/fpubh.2023.1169192. eCollection 2023. Front Public Health. 2023. PMID: 37799155 Free PMC article. Review.
Maternal-fetal outcomes of pregnancies in women treated at an inborn errors of metabolism unit.
Piñar-Gutiérrez A, Dios Fuentes E, Benítez-Ávila R, de Ana-Lobato L, Bueno-Delgado MDA, Soto-Moreno A, Venegas-Moreno E. Piñar-Gutiérrez A, et al. Among authors: bueno delgado mda. Endocrinol Diabetes Nutr (Engl Ed). 2023 Feb;70(2):98-106. doi: 10.1016/j.endien.2022.09.006. Epub 2023 Mar 2. Endocrinol Diabetes Nutr (Engl Ed). 2023. PMID: 36870805
Design and Development of a Heterogeneous Active Assisted Living Solution for Monitoring and Following Up with Chronic Heart Failure Patients in Spain.
Melero-Muñoz FJ, Bueno-Delgado MV, Martínez-Carreras R, Maestre-Ferriz R, Beteta-Medina MÁ, Puebla-Martínez T, Bleda-Tomás AL, Sánchez-Nanclares G, Pérez-de-Zabala R, Álvarez-Leon M. Melero-Muñoz FJ, et al. Among authors: bueno delgado mv. Sensors (Basel). 2022 Nov 19;22(22):8961. doi: 10.3390/s22228961. Sensors (Basel). 2022. PMID: 36433557 Free PMC article.
Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia.
Dios-Fuentes E, Gonzalo Marin M, Remón-Ruiz P, Benitez Avila R, Bueno Delgado MA, Blasco Alonso J, Doulatram Gamgaram VK, Olveira G, Soto-Moreno A, Venegas-Moreno E. Dios-Fuentes E, et al. Among authors: bueno delgado ma. Nutrients. 2022 Mar 21;14(6):1311. doi: 10.3390/nu14061311. Nutrients. 2022. PMID: 35334968 Free PMC article.
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