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Page 1
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: guimas a. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Niemann-Pick Type B: A Rare Cause of Interstitial Lung Disease.
Sousa Martins R, Rocha S, Guimas A, Ribeiro R. Sousa Martins R, et al. Among authors: guimas a. Cureus. 2022 Jan 14;14(1):e21230. doi: 10.7759/cureus.21230. eCollection 2022 Jan. Cureus. 2022. PMID: 35186528 Free PMC article.
Hunter Syndrome: The Phenotype of a Rare Storage Disease.
Sousa Martins R, Rocha S, Guimas A, Ribeiro R. Sousa Martins R, et al. Among authors: guimas a. Cureus. 2022 Feb 7;14(2):e21985. doi: 10.7759/cureus.21985. eCollection 2022 Feb. Cureus. 2022. PMID: 35282545 Free PMC article.
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Pereira Â, Diogo da Silva J, Soares AR, Guimas A, Rocha S, Cardoso M, Garrido C, Azevedo Soares C, Nunes I, Maria Fortuna A, Quelhas D, Figueiroa S, Ribeiro R, Santos M, Martins E, Tkachenko N. Pereira Â, et al. Among authors: guimas a. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122936. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711120
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
Pena MJ, Pinto A, de Almeida MF, de Sousa Barbosa C, Ramos PC, Rocha S, Guimas A, Ribeiro R, Martins E, Bandeira A, Dias CC, MacDonald A, Borges N, Rocha JC. Pena MJ, et al. Among authors: guimas a. Orphanet J Rare Dis. 2021 Feb 13;16(1):84. doi: 10.1186/s13023-021-01721-8. Orphanet J Rare Dis. 2021. PMID: 33581730 Free PMC article.
17 results