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106 results

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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. 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 sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.
Giżewska M, Inwood A, Tyčová R, Vijay S, Fjellbirkeland O, van Spronsen F, Venegas-Moreno EM, Guilder L, Burlina A, Peters H, Potter M, Grošelj U, Chakrapani A, Bélanger-Quintana A, Maillot F, Rutsch F, Arnoux JB, Tchan M, Ingalls K, Zhao Z, Hughes C, Smith N, Muntau AC. Giżewska M, et al. Among authors: belanger quintana a. Metabolism. 2026 Jan 28;178:156513. doi: 10.1016/j.metabol.2026.156513. Online ahead of print. Metabolism. 2026. PMID: 41616812 Free article.
Multicenter study on long-term growth in patients with phenylketonuria.
Stanescu S, Belanger-Quintana A, Rocha JC, Almeida MF, Ahring K, Dokoupil K, Lammardo AM, van Dam E, Muriel A, MacDonald A; ENEP group. Stanescu S, et al. Among authors: belanger quintana a. Orphanet J Rare Dis. 2025 Aug 4;20(1):400. doi: 10.1186/s13023-025-03946-3. Orphanet J Rare Dis. 2025. PMID: 40759975 Free PMC article.
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.
Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T; MetabERN collaboration group on palliative care. Lee A, et al. J Inherit Metab Dis. 2025 Nov;48(6):e70095. doi: 10.1002/jimd.70095. J Inherit Metab Dis. 2025. PMID: 41137497 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: belanger quintana a. Genet Med. 2026 Jan 12:101683. doi: 10.1016/j.gim.2026.101683. Online ahead of print. Genet Med. 2026. PMID: 41537382 Free article.
Fish-eye disease. Altered HDL cholesterol metabolism and corneal involvement: A case report.
Álvarez ODogherty A, Rodríguez Jiménez C, Belanger-Quintana A, Rodríguez Novoa S, Arrieta Blanco F. Álvarez ODogherty A, et al. Among authors: belanger quintana a. Endocrinol Diabetes Nutr (Engl Ed). 2025 Dec;72(10):501638. doi: 10.1016/j.endien.2025.501638. Epub 2025 Oct 15. Endocrinol Diabetes Nutr (Engl Ed). 2025. PMID: 41102068 No abstract available.
106 results