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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. Among authors: giugliani r. Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6. Genet Med. 2008. PMID: 18580692
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: giugliani r. 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.
Development of a novel tool for individual treatment trials in mucopolysaccharidosis.
Wiesinger AM, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, Kampmann C, Zimmermann G, Lagler FB. Wiesinger AM, et al. Among authors: giugliani r. J Inherit Metab Dis. 2025 Jan;48(1):e12816. doi: 10.1002/jimd.12816. Epub 2024 Nov 21. J Inherit Metab Dis. 2025. PMID: 39572375 Free PMC article. Review.
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).
Cardoso-Dos-Santos AC, Mariath LM, Trapp F, Facchin ACB, Leistner S, Kubaski F, Giugliani R, Schuler-Faccini L, Ribeiro EM. Cardoso-Dos-Santos AC, et al. Among authors: giugliani r. J Community Genet. 2024 Oct;15(5):573-580. doi: 10.1007/s12687-024-00718-7. Epub 2024 Aug 19. J Community Genet. 2024. PMID: 39158768 Free PMC article.
α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.
Harmatz P, Giugliani R, Martins AM, Hamazaki T, Kubo T, Kira R, Minami K, Ikeda T, Moriuchi H, Kawashima S, Takasao N, So S, Sonoda H, Hirato T, Tanizawa K, Schmidt M, Sato Y. Harmatz P, et al. Among authors: giugliani r. Mol Ther. 2024 Mar 6;32(3):609-618. doi: 10.1016/j.ymthe.2024.01.009. Epub 2024 Jan 10. Mol Ther. 2024. PMID: 38204164 Free article. Clinical Trial.
585 results