| The complete European guidelines on phenylketonuria: diagnosis and treatment AMJ Van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, ... Orphanet journal of rare diseases 12, 1-56, 2017 | 738 | 2017 |
| Key European guidelines for the diagnosis and management of patients with phenylketonuria FJ Van Spronsen, AMJ van Wegberg, K Ahring, A Bélanger-Quintana, ... The lancet Diabetes & endocrinology 5 (9), 743-756, 2017 | 436 | 2017 |
| The genetic landscape and epidemiology of phenylketonuria A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ... The American Journal of Human Genetics 107 (2), 234-250, 2020 | 202 | 2020 |
| Optimizing the use of sapropterin (BH4) in the management of phenylketonuria N Blau, A Bélanger-Quintana, M Demirkol, F Feillet, M Giovannini, ... Molecular genetics and metabolism 96 (4), 158-163, 2009 | 187 | 2009 |
| PKU dietary handbook to accompany PKU guidelines A MacDonald, AMJ Van Wegberg, K Ahring, S Beblo, ... Orphanet journal of rare diseases 15, 1-21, 2020 | 163 | 2020 |
| Management of phenylketonuria in Europe: survey results from 19 countries N Blau, A Bélanger-Quintana, M Demirkol, F Feillet, M Giovannini, ... Molecular genetics and metabolism 99 (2), 109-115, 2010 | 159 | 2010 |
| Dietary management practices in phenylketonuria across European centres K Ahring, A Bélanger-Quintana, K Dokoupil, HG Ozel, AM Lammardo, ... Clinical nutrition 28 (3), 231-236, 2009 | 147 | 2009 |
| Challenges and pitfalls in the management of phenylketonuria F Feillet, FJ van Spronsen, A MacDonald, FK Trefz, M Demirkol, ... Pediatrics 126 (2), 333-341, 2010 | 120 | 2010 |
| Up to date knowledge on different treatment strategies for phenylketonuria A Bélanger-Quintana, A Burlina, CO Harding, AC Muntau Molecular genetics and metabolism 104, S19-S25, 2011 | 117 | 2011 |
| Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes M Cleary, F Trefz, AC Muntau, F Feillet, FJ van Spronsen, A Burlina, ... Molecular genetics and metabolism 110 (4), 418-423, 2013 | 104 | 2013 |
| Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study S Keil, K Anjema, FJ van Spronsen, N Lambruschini, A Burlina, ... Pediatrics 131 (6), e1881-e1888, 2013 | 103 | 2013 |
| Blood phenylalanine control in phenylketonuria: a survey of 10 European centres K Ahring, A Bélanger-Quintana, K Dokoupil, H Gokmen-Ozel, ... European journal of clinical nutrition 65 (2), 275-278, 2011 | 94 | 2011 |
| Physical development in patients with phenylketonuria on dietary treatment: a retrospective study A Belanger-Quintana, M Martínez-Pardo Molecular genetics and metabolism 104 (4), 480-484, 2011 | 83 | 2011 |
| Micronutrient status in phenylketonuria M Robert, JC Rocha, M Van Rijn, K Ahring, A Bélanger-Quintana, ... Molecular genetics and metabolism 110, S6-S17, 2013 | 82 | 2013 |
| Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype LR Desviat, B Pérez, A Bèlanger-Quintana, M Castro, C Aguado, ... Molecular genetics and metabolism 83 (1-2), 157-162, 2004 | 79 | 2004 |
| Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile MJ Pena, MF Almeida, E van Dam, K Ahring, A Bélanger-Quintana, ... Orphanet Journal of Rare Diseases 10, 1-6, 2015 | 70 | 2015 |
| Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin A Bélanger-Quintana, MJ García, M Castro, LR Desviat, B Pérez, B Mejía, ... Molecular genetics and metabolism 86, 61-66, 2005 | 63 | 2005 |
| Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases E Martín-Hernández, L Aldámiz-Echevarría, E Castejón-Ponce, ... Orphanet journal of rare diseases 9, 1-14, 2014 | 61 | 2014 |
| International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria AC Muntau, DJ Adams, A Bélanger-Quintana, TV Bushueva, R Cerone, ... Molecular Genetics and Metabolism 127 (1), 1-11, 2019 | 57 | 2019 |
| Main issues in micronutrient supplementation in phenylketonuria AM Lammardo, M Robert, JC Rocha, M Van Rijn, K Ahring, ... Molecular genetics and metabolism 110, S1-S5, 2013 | 57 | 2013 |
