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Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Among authors: burton bk. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.
Initial report from the Hunter Outcome Survey.
Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators. Wraith JE, et al. Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6. Genet Med. 2008. PMID: 18580692
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators; Yang K, Mealiffe M, Haller C. Hendriksz CJ, et al. Mol Genet Metab. 2015 Feb;114(2):178-85. doi: 10.1016/j.ymgme.2014.08.012. Epub 2014 Sep 6. Mol Genet Metab. 2015. PMID: 25284089 Free article. Clinical Trial.
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. Giugliani R, et al. Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z. Orphanet J Rare Dis. 2024. PMID: 38715031 Free PMC article.
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D. Muenzer J, et al. Among authors: burton bk. J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39252529
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: burton bk. 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.
255 results