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The Genetic Landscape and Epidemiology of Phenylketonuria.
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.
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.
Evers RAF, van Vliet D, van Spronsen FJ.
Evers RAF, et al.
J Inherit Metab Dis. 2020 Mar;43(2):189-199. doi: 10.1002/jimd.12151. Epub 2019 Aug 20.
J Inherit Metab Dis. 2020.
PMID: 31373030
Review.
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Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients.
Evers RAF, van Wegberg AMJ, van Dam E, de Vries MC, Janssen MCH, van Spronsen FJ.
Evers RAF, et al.
Mol Genet Metab. 2018 Aug;124(4):238-242. doi: 10.1016/j.ymgme.2018.06.009. Epub 2018 Jun 20.
Mol Genet Metab. 2018.
PMID: 30078395
No abstract available.
Item in Clipboard
The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing.
Evers RAF, van Wegberg AMJ, Anjema K, Lubout CMA, van Dam E, van Vliet D, Blau N, van Spronsen FJ.
Evers RAF, et al.
J Inherit Metab Dis. 2020 Mar;43(2):244-250. doi: 10.1002/jimd.12173. Epub 2019 Nov 20.
J Inherit Metab Dis. 2020.
PMID: 31503351
Item in Clipboard
Does the 48-hour BH4 loading test miss responsive PKU patients?
van Wegberg AMJ, Evers RAF, van Dam E, de Vries MC, Janssen MCH, Heiner-Fokkema MR, van Spronsen FJ.
van Wegberg AMJ, et al. Among authors: evers raf.
Mol Genet Metab. 2020 Mar;129(3):186-192. doi: 10.1016/j.ymgme.2019.12.011. Epub 2019 Dec 24.
Mol Genet Metab. 2020.
PMID: 31924462
Free article.
Clinical Trial.
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Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Evers RAF, van Wegberg AMJ, MacDonald A, Huijbregts SCJ, Leuzzi V, van Spronsen FJ.
Evers RAF, et al.
Nutrients. 2022 Sep 19;14(18):3874. doi: 10.3390/nu14183874.
Nutrients. 2022.
PMID: 36145250
Free PMC article.
Review.
Item in Clipboard
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria.
van Wegberg A, Evers R, Burgerhof J, van Dam E, Heiner-Fokkema MR, Janssen M, de Vries MC, van Spronsen FJ.
van Wegberg A, et al. Among authors: evers r.
Mol Genet Metab. 2021 May;133(1):49-55. doi: 10.1016/j.ymgme.2021.02.008. Epub 2021 Mar 6.
Mol Genet Metab. 2021.
PMID: 33766497
Free article.
Clinical Trial.
Item in Clipboard
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.
Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Bosch AM, Burlina A, Campistol J, Coskun T, Feillet F, Giżewska M, Huijbregts SCJ, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK, MacDonald A, van Spronsen FJ.
Evers RAF, et al.
Mol Genet Metab. 2021 Apr;132(4):215-219. doi: 10.1016/j.ymgme.2021.01.013. Epub 2021 Feb 4.
Mol Genet Metab. 2021.
PMID: 33610470
Free article.
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