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Page 1
Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia.
Nutrients. 2022 Mar 21;14(6):1311. doi: 10.3390/nu14061311.
Nutrients. 2022.
PMID: 35334968
Free PMC article.
Adaptation and Validation of a Questionnaire to Evaluate Knowledge of the Low Phe Diet in PKU.
Ramos-Álvarez R, Kapp M, Rodríguez-Ruiz MM, Fausor R, Bueno-Delgado MA, Ahring K, Waisbren SE.
Ramos-Álvarez R, et al.
Nutrients. 2021 Aug 7;13(8):2719. doi: 10.3390/nu13082719.
Nutrients. 2021.
PMID: 34444879
Free PMC article.
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Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.
Keller R, et al. Among authors: bueno delgado ma.
J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034.
J Inherit Metab Dis. 2019.
PMID: 30740731
Free article.
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C.
Martín-Hernández E, et al.
Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4.
Orphanet J Rare Dis. 2014.
PMID: 25433810
Free PMC article.
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