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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Among authors: ezgu f. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study.
van Spronsen F, Peters H, Margvelashvili L, Agladze D, Schwartz IVD, Giżewska M, Hamazaki T, Guilder L, MacDonald A, Vijay S, Inwood A, Minami M, Fjellbirkeland O, Lund A, Lah M, Thomas JA, Longo N, Kiykim E, Ishige M, Burlina A, Bélanger-Quintana A, Rutsch F, Opladen T, Mungan H, Ezgü F, Bratkovic D, Chakrapani A, Ito T, Guimas A, Zori R, Tchan M, Sacharow S, Oliveira A, Janeiro P, Guerra IC, Plana JC, Yıldız Y, Canda E, Khan A, Vockley J, Breilyn MS, Manti F, Larkin A, Hughes C, Liu E, Gao L, Ingalls K, Smith N, Muntau AC. van Spronsen F, et al. Among authors: ezgu f. Genet Med. 2026 Jan 12:101683. doi: 10.1016/j.gim.2026.101683. Online ahead of print. Genet Med. 2026. PMID: 41537382 Free article.
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.
Germain DP, Al-Jasmi F, Altarescu G, Azevedo O, Barreto FC, Burlina AP, Ezgü F, Laney DA, Linhart A, Maski M, Moiseev S, Niu DM, Nochioka K, Ouyang Y, Onay H, Pavlou M, Pachter N, Politei J, Rawda S, Steeds RP, Tuttolomondo A, Yu WC, West ML, Berger KI, Maksimova I. Germain DP, et al. Among authors: ezgu f. Genet Med Open. 2025 Dec 2;4:103481. doi: 10.1016/j.gimo.2025.103481. eCollection 2026. Genet Med Open. 2025. PMID: 41551006 Free PMC article. No abstract available.
Gene Therapies: Any Merit in Nephrology?
Leventoğlu E, Bakkaloğlu SA, Ezgü FS. Leventoğlu E, et al. Among authors: ezgu fs. G Ital Nefrol. 2025 Oct 24;42(5):2025-vol5. doi: 10.69097/42-05-2025-06. G Ital Nefrol. 2025. PMID: 41184189 Free article. Review.
142 results