1: Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, B\u00e9langer-Quintana A, Bosch AM,
\nBurlina A, Campistol J, Coskun T, Feillet F, Gi\u017cewska M, Huijbregts SCJ, Kearney
\nS, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK,
\nMacDonald A, van Spronsen FJ. Defining tetrahydrobiopterin responsiveness in
\nphenylketonuria: Survey results from 38 countries. Mol Genet Metab. 2021 Feb
\n4:S1096-7192(21)00033-0. doi: 10.1016\/j.ymgme.2021.01.013. Epub ahead of print.
\nPMID: 33610470.<\/p>\n
2: van Wegberg AMJ, MacDonald A, Abeln D, Hagedorn TS, Lange E, Trefz F, van
\nVliet D, van Spronsen FJ. Patient’s thoughts and expectations about centres of
\nexpertise for PKU. Orphanet J Rare Dis. 2021 Jan 6;16(1):2. doi:
\n10.1186\/s13023-020-01647-7. PMID: 33407655; PMCID: PMC7789756.<\/p>\n
3: Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E,
\nLiepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK,
\nHoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D.
\nPhenylalanine Effects on Brain Function in Adult Phenylketonuria. Neurology.
\n2021 Jan 19;96(3):e399-e411. doi: 10.1212\/WNL.0000000000011088. Epub 2020 Oct
\n22. PMID: 33093221.<\/p>\n
4: MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, B\u00e9langer-Quintana A, Burlina
\nA, Campistol J, Co\u015fkun T, Feillet F, Gi\u017cewska M, Huijbregts SC, Leuzzi V,
\nMaillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. Correction
\nto: PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020
\nSep 1;15(1):230. doi: 10.1186\/s13023-020-01486-6. Erratum for: Orphanet J Rare
\nDis. 2020 Jun 30;15(1):171. PMID: 32873338; PMCID: PMC7465324.<\/p>\n
5: Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C,
\nChiesa AE, Christodoulou J, \u0110or\u0111evi\u0107 M, Desviat LR, Eliyahu A, Evers RAF,
\nFajkusova L, Feillet F, Bonfim-Freitas PE, Gi\u017cewska M, Gundorova P, Karall D,
\nKneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F,
\nOltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M,
\nScholl-B\u00fcrgi S, Sp\u00e9cola N, Stojiljkovi\u0107 M, Shen N, Santana-da Silva LC, Skouma
\nA, van Spronsen F, Stoppioni V, Th\u00f6ny B, Trefz FK, Vockley J, Yu Y, Zschocke J,
\nHoffmann GF, Garbade SF, Blau N. The Genetic Landscape and Epidemiology of
\nPhenylketonuria. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi:
\n10.1016\/j.ajhg.2020.06.006. Epub 2020 Jul 14. PMID: 32668217; PMCID: PMC7413859.<\/p>\n
6: MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, B\u00e9langer-Quintana A, Burlina
\nA, Campistol J, Co\u015fkun T, Feillet F, Gi\u017cewska M, Huijbregts SC, Leuzzi V,
\nMaillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. PKU dietary
\nhandbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020 Jun
\n30;15(1):171. doi: 10.1186\/s13023-020-01391-y. Erratum in: Orphanet J Rare Dis.
\n2020 Sep 1;15(1):230. PMID: 32605583; PMCID: PMC7329487.<\/p>\n
7: Cannet C, Pilotto A, Rocha JC, Sch\u00e4fer H, Spraul M, Berg D, Nawroth P,
\nKasperk C, Gramer G, Haas D, Piel D, K\u00f6lker S, Hoffmann G, Freisinger P, Trefz
\nF. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in
\nadult phenylketonuria (PKU) patients compared to healthy controls: results of
\nNMR metabolomics investigation. Orphanet J Rare Dis. 2020 Feb 27;15(1):61. doi:
\n10.1186\/s13023-020-1329-5. PMID: 32106880; PMCID: PMC7047385.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"footnotes":""},"class_list":["post-13","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/pages\/13","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/comments?post=13"}],"version-history":[{"count":13,"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/pages\/13\/revisions"}],"predecessor-version":[{"id":896,"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/pages\/13\/revisions\/896"}],"wp:attachment":[{"href":"https:\/\/metabolic-consulting.de\/index.php\/wp-json\/wp\/v2\/media?parent=13"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}