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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 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: muntau ac. 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
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: muntau ac. 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.
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ; KAMPER investigators. Feillet F, et al. Among authors: muntau ac. J Inherit Metab Dis. 2025 Jan;48(1):e12796. doi: 10.1002/jimd.12796. Epub 2024 Sep 5. J Inherit Metab Dis. 2025. PMID: 39237321 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: muntau ac. 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.
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: muntau ac. Mol Genet Metab. 2025 Jun;145(2):109125. doi: 10.1016/j.ymgme.2025.109125. Epub 2025 Apr 30. Mol Genet Metab. 2025. PMID: 40378670 Free article. Review.
136 results