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[Results of the neonatal screening on Western Andalusia after a decade of experience.].
Rev Esp Salud Publica. 2020 Dec 16;94:e202012174.
Rev Esp Salud Publica. 2020.
PMID: 33323920
Free article.
Spanish.
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.
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[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.
Rev Esp Salud Publica. 2021 Jan 26;95:e202101021.
Rev Esp Salud Publica. 2021.
PMID: 33496277
Free article.
Spanish.
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[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.
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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.
Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30.
Hum Mutat. 2020.
PMID: 32333439
Free article.
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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
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