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Year Number of Results
2003 1
2004 1
2005 1
2007 1
2009 3
2010 2
2011 4
2012 1
2013 2
2014 2
2015 7
2016 3
2017 3
2018 1
2019 6
2020 10
2021 8
2022 8
2023 5
2024 6

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65 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: belanger quintana a. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: belanger quintana a. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: belanger quintana a. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
Women with Gaucher Disease.
Meijon-Ortigueira MDM, Solares I, Muñoz-Delgado C, Stanescu S, Morado M, Pascual-Izquierdo C, Villalon Blanco L, Belanger Quintana A, Menéndez-Conde CP, Morales-Conejo M, Villarrubia-Espinosa J. Meijon-Ortigueira MDM, et al. Among authors: belanger quintana a. Biomedicines. 2024 Mar 5;12(3):579. doi: 10.3390/biomedicines12030579. Biomedicines. 2024. PMID: 38540192 Free PMC article. Review.
Weight Management in Phenylketonuria: What Should Be Monitored.
Rocha JC, van Rijn M, van Dam E, Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Robert M, Heidenborg C, MacDonald A. Rocha JC, et al. Among authors: belanger quintana a. Ann Nutr Metab. 2016;68(1):60-5. doi: 10.1159/000442304. Epub 2015 Nov 25. Ann Nutr Metab. 2016. PMID: 26598928 Free article. Review.
GLUT1 and COVID-19 deficiency syndrome.
Arrieta Blanco F, Bélanger Quintana A, Bengoa Rojano N, Stanescu S, Martinez Pardo M. Arrieta Blanco F, et al. Among authors: belanger quintana a. Endocrinol Diabetes Nutr (Engl Ed). 2021 Aug-Sep;68(7):514-515. doi: 10.1016/j.endien.2021.11.004. Epub 2021 Nov 18. Endocrinol Diabetes Nutr (Engl Ed). 2021. PMID: 34863417 No abstract available.
[GLUT1 and COVID-19 deficiency syndrome].
Arrieta Blanco F, Bélanger Quintana A, Bengoa Rojano N, Stanescu S, MartinezPardo M. Arrieta Blanco F, et al. Among authors: belanger quintana a. Endocrinol Diabetes Nutr. 2021 Aug-Sep;68(7):514-515. doi: 10.1016/j.endinu.2020.07.001. Epub 2020 Sep 1. Endocrinol Diabetes Nutr. 2021. PMID: 34632289 Free PMC article. Spanish. No abstract available.
Management of phenylketonuria in European PKU centres remains heterogeneous.
Ahring K, Bélanger-Quintana A, Burlina A, Giżewska M, Maillot F, Muntau A, Roscher A, MacDonald A. Ahring K, et al. Among authors: belanger quintana a. Mol Genet Metab. 2024 Jan;141(1):108120. doi: 10.1016/j.ymgme.2023.108120. Epub 2023 Dec 23. Mol Genet Metab. 2024. PMID: 38159545
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M. Stanescu S, et al. Among authors: belanger quintana a. Biomedicines. 2023 Oct 22;11(10):2861. doi: 10.3390/biomedicines11102861. Biomedicines. 2023. PMID: 37893235 Free PMC article.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Bélanger-Quintana A, Arrieta Blanco F, Barrio-Carreras D, Bergua Martínez A, Cañedo Villarroya E, García-Silva MT, Lama More R, Martín-Hernández E, López AM, Morales-Conejo M, Pedrón-Giner C, Quijada-Fraile P, Stanescu S, Casanova MM. Bélanger-Quintana A, et al. Nutrients. 2022 Jul 2;14(13):2755. doi: 10.3390/nu14132755. Nutrients. 2022. PMID: 35807935 Free PMC article. Review.
65 results