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

Year Number of Results
2003 2
2004 2
2005 1
2006 3
2007 4
2008 4
2009 6
2010 11
2011 9
2012 5
2013 11
2014 11
2015 12
2016 14
2017 17
2018 12
2019 17
2020 12
2021 11
2022 8
2023 4
2024 8
2025 12
2026 0

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162 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.
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.
International Survey on Phenylketonuria Newborn Screening.
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U. Trampuž D, et al. Among authors: van spronsen fj. Int J Neonatal Screen. 2025 Feb 26;11(1):18. doi: 10.3390/ijns11010018. Int J Neonatal Screen. 2025. PMID: 40136633 Free PMC article.
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.
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.
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Veldman A, Sikkema-Raddatz B, Derks TGJ, van Karnebeek CDM, Kiewiet MBG, Mulder MF, Nelen MR, Rubio-Gozalbo ME, Sinke RJ, de Sain-van der Velden MG, Visser G, de Vries MC, Westra D, Williams M, Wevers RA, Heiner-Fokkema MR, van Spronsen FJ. Veldman A, et al. Among authors: van spronsen fj. Int J Neonatal Screen. 2024 Dec 28;11(1):1. doi: 10.3390/ijns11010001. Int J Neonatal Screen. 2024. PMID: 39846587 Free PMC article.
Future treatment strategies in phenylketonuria.
van Spronsen FJ, Enns GM. van Spronsen FJ, et al. Mol Genet Metab. 2010;99 Suppl 1:S90-5. doi: 10.1016/j.ymgme.2009.10.008. Mol Genet Metab. 2010. PMID: 20123478 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.
Phenylketonuria: a 21st century perspective.
van Spronsen FJ. van Spronsen FJ. Nat Rev Endocrinol. 2010 Sep;6(9):509-14. doi: 10.1038/nrendo.2010.125. Nat Rev Endocrinol. 2010. PMID: 20720592 Review.
162 results