Latest Publications

1: 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. Defining tetrahydrobiopterin responsiveness in
phenylketonuria: Survey results from 38 countries. Mol Genet Metab. 2021 Feb
4:S1096-7192(21)00033-0. doi: 10.1016/j.ymgme.2021.01.013. Epub ahead of print.
PMID: 33610470.

2: van Wegberg AMJ, MacDonald A, Abeln D, Hagedorn TS, Lange E, Trefz F, van
Vliet D, van Spronsen FJ. Patient’s thoughts and expectations about centres of
expertise for PKU. Orphanet J Rare Dis. 2021 Jan 6;16(1):2. doi:
10.1186/s13023-020-01647-7. PMID: 33407655; PMCID: PMC7789756.

3: Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E,
Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK,
Hoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D.
Phenylalanine Effects on Brain Function in Adult Phenylketonuria. Neurology.
2021 Jan 19;96(3):e399-e411. doi: 10.1212/WNL.0000000000011088. Epub 2020 Oct
22. PMID: 33093221.

4: 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. Correction
to: PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020
Sep 1;15(1):230. doi: 10.1186/s13023-020-01486-6. Erratum for: Orphanet J Rare
Dis. 2020 Jun 30;15(1):171. PMID: 32873338; PMCID: PMC7465324.

5: 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. 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. PMID: 32668217; PMCID: PMC7413859.

6: 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. PKU dietary
handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020 Jun
30;15(1):171. doi: 10.1186/s13023-020-01391-y. Erratum in: Orphanet J Rare Dis.
2020 Sep 1;15(1):230. PMID: 32605583; PMCID: PMC7329487.

7: Cannet C, Pilotto A, Rocha JC, Schäfer H, Spraul M, Berg D, Nawroth P,
Kasperk C, Gramer G, Haas D, Piel D, Kölker S, Hoffmann G, Freisinger P, Trefz
F. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in
adult phenylketonuria (PKU) patients compared to healthy controls: results of
NMR metabolomics investigation. Orphanet J Rare Dis. 2020 Feb 27;15(1):61. doi:
10.1186/s13023-020-1329-5. PMID: 32106880; PMCID: PMC7047385.