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Page 1
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.
Welford RWD, Farine H, Steiner M, Garzotti M, Dobrenis K, Sievers C, Strasser DS, Amraoui Y, Groenen PMA, Giugliani R, Mengel E. Welford RWD, et al. Among authors: giugliani r. Mol Genet Metab Rep. 2022 Feb 1;30:100843. doi: 10.1016/j.ymgmr.2022.100843. eCollection 2022 Mar. Mol Genet Metab Rep. 2022. PMID: 35242574 Free PMC article.
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. Among authors: giugliani r. 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.
Characterization of glycan substrates accumulating in GM1 Gangliosidosis.
Lawrence R, Van Vleet JL, Mangini L, Harris A, Martin N, Clark W, Chandriani S, LeBowitz JH, Giugliani R, d'Azzo A, Yogalingam G, Crawford BE. Lawrence R, et al. Among authors: giugliani r. Mol Genet Metab Rep. 2019 Nov 3;21:100524. doi: 10.1016/j.ymgmr.2019.100524. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720227 Free PMC article.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Wasserstein M, Lachmann R, Hollak C, Arash-Kaps L, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Chen Y, Furey S, Thurberg BL, Zaher A, Kumar M. Wasserstein M, et al. Among authors: giugliani r. Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26. Genet Med. 2022. PMID: 35471153 Free article. Clinical Trial.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Among authors: giugliani r. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 Free PMC article.
CFTR gene: molecular analysis in patients from South Brazil.
Streit C, Burlamaque-Neto AC, de Abreu e Silva F, Giugliani R, Saraiva Pereira ML. Streit C, et al. Among authors: giugliani r. Mol Genet Metab. 2003 Apr;78(4):259-64. doi: 10.1016/s1096-7192(03)00033-7. Mol Genet Metab. 2003. PMID: 12706377
585 results