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The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, Abadie V, Harding CO, Cederbaum S, Dobbelaere D, Smith A, Dorenbaum A. Burton BK, et al. Among authors: feillet f. J Inherit Metab Dis. 2007 Oct;30(5):700-7. doi: 10.1007/s10545-007-0605-z. Epub 2007 Sep 12. J Inherit Metab Dis. 2007. PMID: 17846916 Clinical Trial.
[Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].
Abadie V, Berthelot J, Feillet F, Maurin N, Mercier A, Ogier de Baulny H, de Parscau L; Association française pour le dépistage et la prévention des handicaps de l'enfant (AFDPHE). Abadie V, et al. Among authors: feillet f. Arch Pediatr. 2005 May;12(5):594-601. doi: 10.1016/j.arcped.2005.02.004. Arch Pediatr. 2005. PMID: 15885553 Review. French.
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, Whitley CB, Feillet F, Feigenbaum AS, Bebchuk JD, Christ-Schmidt H, Dorenbaum A; Sapropterin Research Group. Levy HL, et al. Among authors: feillet f. Lancet. 2007 Aug 11;370(9586):504-10. doi: 10.1016/S0140-6736(07)61234-3. Lancet. 2007. PMID: 17693179 Clinical Trial.
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F. Jeannesson-Thivisol E, et al. Among authors: feillet f. Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x. Orphanet J Rare Dis. 2015. PMID: 26666653 Free PMC article.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K. Muntau AC, et al. Among authors: feillet f. Mol Genet Metab. 2019 May;127(1):1-11. doi: 10.1016/j.ymgme.2019.04.004. Epub 2019 Apr 26. Mol Genet Metab. 2019. PMID: 31103398 Free article. Review.
Bone mineral density is within normal range in most adult phenylketonuria patients.
Lubout CMA, Arrieta Blanco F, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee JH, Maillot F, Stepien KM, Wagenmakers MAEM, Welsink-Karssies MM, van Spronsen FJ, Bosch AM. Lubout CMA, et al. Among authors: feillet f. J Inherit Metab Dis. 2020 Mar;43(2):251-258. doi: 10.1002/jimd.12177. Epub 2020 Feb 6. J Inherit Metab Dis. 2020. PMID: 31587319 Free PMC article.
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: feillet f. 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.
229 results