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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 11
2010 81
2011 81
2012 64
2013 82
2014 58
2015 66
2016 53
2017 68
2018 83
2019 83
2020 81
2021 94
2022 69
2023 90
2024 101
2025 97
2026 17

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1,108 results

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Page 1
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. van Spronsen FJ, et al. Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. Nat Rev Dis Primers. 2021. PMID: 34017006 Free PMC article. Review.
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. 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.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, 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, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA. Elhawary NA, et al. Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL. Blau N, et al. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Lancet. 2010. PMID: 20971365 Review.
Phenylketonuria and the brain.
Rovelli V, Longo N. Rovelli V, et al. Mol Genet Metab. 2023 May;139(1):107583. doi: 10.1016/j.ymgme.2023.107583. Epub 2023 Apr 15. Mol Genet Metab. 2023. PMID: 37105048 Review.
State-of-the-art 2023 on gene therapy for phenylketonuria.
Martinez M, Harding CO, Schwank G, Thöny B. Martinez M, et al. J Inherit Metab Dis. 2024 Jan;47(1):80-92. doi: 10.1002/jimd.12651. Epub 2023 Aug 3. J Inherit Metab Dis. 2024. PMID: 37401651 Free PMC article. Review.
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. MacDonald A, et al. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Orphanet J Rare Dis. 2020. PMID: 32605583 Free PMC article. Review.
Nutrition in phenylketonuria.
Talebi S, Eshraghi P. Talebi S, et al. Clin Nutr ESPEN. 2024 Dec;64:307-313. doi: 10.1016/j.clnesp.2024.09.032. Epub 2024 Oct 19. Clin Nutr ESPEN. 2024. PMID: 39427751 Review.
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. van Wegberg AMJ, et al. Mol Genet Metab. 2025 Jun;145(2):109125. doi: 10.1016/j.ymgme.2025.109125. Epub 2025 Apr 30. Mol Genet Metab. 2025. PMID: 40378670 Free article. Review.
1,108 results