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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. 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.
"Lymphonodular hyperplasia as a sign of food allergy in children".
Suárez Cortina L, Bélanger-Quintana A. Suárez Cortina L, et al. J Pediatr Gastroenterol Nutr. 2000 Mar;30(3):351. doi: 10.1097/00005176-200003000-00032. J Pediatr Gastroenterol Nutr. 2000. PMID: 10749430 No abstract available.
Management of phenylketonuria in Europe: survey results from 19 countries.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826
Challenges and pitfalls in the management of phenylketonuria.
Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, Bélanger-Quintana A, Blau N. Feillet F, et al. Pediatrics. 2010 Aug;126(2):333-41. doi: 10.1542/peds.2009-3584. Epub 2010 Jul 12. Pediatrics. 2010. PMID: 20624808
94 results