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Page 1
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: evers raf. 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.
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.
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.