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711 results

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Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. Burton BK, et al. Among authors: scarpa m. N Engl J Med. 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365. N Engl J Med. 2015. PMID: 26352813 Free article. Clinical Trial.
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.
Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, Lin SP, Mengel E, Scarpa M, Valayannopoulos V, Giugliani R; STRIVE Investigators; Slasor P, Lounsbury D, Dummer W. Hendriksz CJ, et al. Among authors: scarpa m. J Inherit Metab Dis. 2014 Nov;37(6):979-90. doi: 10.1007/s10545-014-9715-6. Epub 2014 May 9. J Inherit Metab Dis. 2014. PMID: 24810369 Free PMC article. Clinical Trial.
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: scarpa m. 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.
Open issues in Mucopolysaccharidosis type I-Hurler.
Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M. Parini R, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9. Orphanet J Rare Dis. 2017. PMID: 28619065 Free PMC article. Review.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Muenzer J, Jones SA, Tylki-Szymańska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH. Muenzer J, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2017 May 2;12(1):82. doi: 10.1186/s13023-017-0635-z. Orphanet J Rare Dis. 2017. PMID: 28464912 Free PMC article. Review.
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).
Hughes DA, Deegan P, Giraldo P, Göker-Alpan Ö, Lau H, Lukina E, Revel-Vilk S, Scarpa M, Botha J, Gadir N, Zimran A; GOS Steering Committee. Hughes DA, et al. Among authors: scarpa m. J Clin Med. 2022 Aug 31;11(17):5158. doi: 10.3390/jcm11175158. J Clin Med. 2022. PMID: 36079085 Free PMC article.
711 results