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

Year Number of Results
2002 1
2003 2
2004 2
2005 1
2006 3
2007 5
2008 4
2009 8
2010 12
2011 11
2012 6
2013 11
2014 15
2015 13
2016 17
2017 19
2018 13
2019 21
2020 15
2021 11
2022 9
2023 4
2024 5

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172 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.
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL. Blau N, et al. Among authors: van spronsen fj. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Lancet. 2010. PMID: 20971365 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. Among authors: van spronsen f. 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. 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.
Liver Cancer in Tyrosinemia Type 1.
van Ginkel WG, Pennings JP, van Spronsen FJ. van Ginkel WG, et al. Among authors: van spronsen fj. Adv Exp Med Biol. 2017;959:101-109. doi: 10.1007/978-3-319-55780-9_9. Adv Exp Med Biol. 2017. PMID: 28755188 Review.
Dietary Considerations in Tyrosinemia Type I.
van Spronsen FJ, van Rijn M, Meyer U, Das AM. van Spronsen FJ, et al. Adv Exp Med Biol. 2017;959:197-204. doi: 10.1007/978-3-319-55780-9_18. Adv Exp Med Biol. 2017. PMID: 28755197 Review.
Preventive use of nitisinone in alkaptonuria.
Wolffenbuttel BHR, Heiner-Fokkema MR, van Spronsen FJ. Wolffenbuttel BHR, et al. Among authors: van spronsen fj. Orphanet J Rare Dis. 2021 Aug 3;16(1):343. doi: 10.1186/s13023-021-01977-0. Orphanet J Rare Dis. 2021. PMID: 34344451 Free PMC article.
Meta-analyses of cognitive functions in early-treated adults with phenylketonuria.
Romani C, Olson A, Aitkenhead L, Baker L, Patel D, Spronsen FV, MacDonald A, Wegberg AV, Huijbregts S. Romani C, et al. Among authors: spronsen fv. Neurosci Biobehav Rev. 2022 Dec;143:104925. doi: 10.1016/j.neubiorev.2022.104925. Epub 2022 Oct 22. Neurosci Biobehav Rev. 2022. PMID: 36283539 Free article. Review.
172 results