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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. Among authors: bueno delgado ma.
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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Early feeding practices in infants with phenylketonuria across Europe.
Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, Arslan N, Assoun M, Atik Altınok Y, Barrio-Carreras D, Belanger Quintana A, Bernabei SM, Bontemps C, Boyle F, Bruni G, Bueno-Delgado M, Caine G, Carvalho R, Chrobot A, Chyż K, Cochrane B, Correia C, Corthouts K, Daly A, De Leo S, Desloovere A, De Meyer A, De Theux A, Didycz B, Dijsselhof ME, Dokoupil K, Drabik J, Dunlop C, Eberle-Pelloth W, Eftring K, Ekengren J, Errekalde I, Evans S, Foucart A, Fokkema L, François L, French M, Forssell E, Gingell C, Gonçalves C, Gökmen Özel H, Grimsley A, Gugelmo G, Gyüre E, Heller C, Hensler R, Jardim I, Joost C, Jörg-Streller M, Jouault C, Jung A, Kanthe M, Koç N, Kok IL, Kozanoğlu T, Kumru B, Lang F, Lang K, Liegeois I, Liguori A, Lilje R, Ļubina O, Manta-Vogli P, Mayr D, Meneses C, Newby C, Meyer U, Mexia S, Nicol C, Och U, Olivas SM, Pedrón-Giner C, Pereira R, Plutowska-Hoffmann K, Purves J, Re Dionigi A, Reinson K, Robert M, Robertson L, Rocha JC, Rohde C, Rosenbaum-Fabian S, Rossi A, Ruiz M, Saligova J, Gutiérrez-Sánchez A, Schlune A, Schulpis K, Serrano-Nieto J, Skarpalezou A, Skeath R, Slabbert A, Straczek K, Giżewska M, Terry A, Thom R, Tooke A, Tuokkola J, van Dam E, van…
See abstract for full author list ➔
Pinto A, et al.
Mol Genet Metab Rep. 2018 Aug 8;16:82-89. doi: 10.1016/j.ymgmr.2018.07.008. eCollection 2018 Sep.
Mol Genet Metab Rep. 2018.
PMID: 30101073
Free PMC article.
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Weaning practices in phenylketonuria vary between health professionals in Europe.
Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, Arslan N, Assoun M, Atik Altınok Y, Barrio-Carreras D, Belanger Quintana A, Bernabei SM, Bontemps C, Boyle F, Bruni G, Bueno-Delgado M, Caine G, Carvalho R, Chrobot A, Chyż K, Cochrane B, Correia C, Corthouts K, Daly A, De Leo S, Desloovere A, De Meyer A, De Theux A, Didycz B, Dijsselhof ME, Dokoupil K, Drabik J, Dunlop C, Eberle-Pelloth W, Eftring K, Ekengren J, Errekalde I, Evans S, Foucart A, Fokkema L, François L, French M, Forssell E, Gingell C, Gonçalves C, Gökmen Özel H, Grimsley A, Gugelmo G, Gyüre E, Heller C, Hensler R, Jardim I, Joost C, Jörg-Streller M, Jouault C, Jung A, Kanthe M, Koç N, Kok IL, Kozanoğlu T, Kumru B, Lang F, Lang K, Liegeois I, Liguori A, Lilje R, Ļubina O, Manta-Vogli P, Mayr D, Meneses C, Newby C, Meyer U, Mexia S, Nicol C, Och U, Olivas SM, Pedrón-Giner C, Pereira R, Plutowska-Hoffmann K, Purves J, Re Dionigi A, Reinson K, Robert M, Robertson L, Rocha JC, Rohde C, Rosenbaum-Fabian S, Rossi A, Ruiz M, Saligova J, Gutiérrez-Sánchez A, Schlune A, Schulpis K, Serrano-Nieto J, Skarpalezou A, Skeath R, Slabbert A, Straczek K, Giżewska M, Terry A, Thom R, Tooke A, Tuokkola J, van Dam E, van…
See abstract for full author list ➔
Pinto A, et al.
Mol Genet Metab Rep. 2018 Nov 25;18:39-44. doi: 10.1016/j.ymgmr.2018.11.003. eCollection 2019 Mar.
Mol Genet Metab Rep. 2018.
PMID: 30705824
Free PMC 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. Among authors: bueno delgado ma.
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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Acrodermatitis acidemica: experience of 5 years in Andalusia.
Dominguez-Cruz J, Bueno-Delgado M, Bernabeu-Wittel J, Delgado-Pecellin C, Conejo-Mir J.
Dominguez-Cruz J, et al.
Pediatr Dermatol. 2010 Mar-Apr;27(2):218-9; author reply 219-20. doi: 10.1111/j.1525-1470.2009.01080.x.
Pediatr Dermatol. 2010.
PMID: 20537087
No abstract available.
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[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency].
Delgado Pecellín I, Castillo Reguera Y, Delgado Pecellín C, Bueno Delgado MA, González Valencia JP, Obando Santaella I, Neth O.
Delgado Pecellín I, et al. Among authors: bueno delgado ma.
An Pediatr (Barc). 2012 Jul;77(1):43-6. doi: 10.1016/j.anpedi.2012.02.010. Epub 2012 Apr 1.
An Pediatr (Barc). 2012.
PMID: 22472699
Free PMC article.
Spanish.
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Acrodermatitis enerophatica-like skin lesions secondary to isoleucine deficiency.
Domínguez-Cruz JJ, Bueno-Delgado M, Pereyra J, Bernabeu-Wittel J, Conejo-Mir J.
Domínguez-Cruz JJ, et al.
Eur J Dermatol. 2011 Jan-Feb;21(1):115-6. doi: 10.1684/ejd.2010.1175.
Eur J Dermatol. 2011.
PMID: 21224187
No abstract available.
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