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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: longo n. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: longo n. J Inherit Metab Dis. 2024 Jul;47(4):636-650. doi: 10.1002/jimd.12724. Epub 2024 Mar 3. J Inherit Metab Dis. 2024. PMID: 38433424
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Harding CO, et al. Among authors: longo n. Mol Genet Metab Rep. 2024 Apr 23;39:101084. doi: 10.1016/j.ymgmr.2024.101084. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694233 Free PMC article.
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.
Whitehall KB, Rose S, Clague GE, Ahring KK, Bilder DA, Harding CO, Hermida Á, Inwood A, Longo N, Maillot F, Muntau AC, Pessoa ALS, Rocha JC, Rohr F, Sivri S, Said J, Oshinbolu S, Sibbring GC. Whitehall KB, et al. Among authors: longo n. Orphanet J Rare Dis. 2024 Aug 12;19(1):293. doi: 10.1186/s13023-024-03203-z. Orphanet J Rare Dis. 2024. PMID: 39135125 Free PMC article.
Meta-analysis of bone mineral density in adults with phenylketonuria.
Rocha JC, Hermida Á, Jones CJ, Wu Y, Clague GE, Rose S, Whitehall KB, Ahring KK, Pessoa ALS, Harding CO, Rohr F, Inwood A, Longo N, Muntau AC, Sivri S, Maillot F. Rocha JC, et al. Among authors: longo n. Orphanet J Rare Dis. 2024 Sep 12;19(1):338. doi: 10.1186/s13023-024-03223-9. Orphanet J Rare Dis. 2024. PMID: 39267130 Free PMC article.
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: longo n. Genet Med. 2026 Jan 12:101683. doi: 10.1016/j.gim.2026.101683. Online ahead of print. Genet Med. 2026. PMID: 41537382 Free article.
749 results