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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Among authors: lavery ca. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Biegstraaten M, et al. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. Orphanet J Rare Dis. 2015. PMID: 25885911 Free PMC article.
Mortality in patients with Sanfilippo syndrome.
Lavery C, Hendriksz CJ, Jones SA. Lavery C, et al. Orphanet J Rare Dis. 2017 Oct 23;12(1):168. doi: 10.1186/s13023-017-0717-y. Orphanet J Rare Dis. 2017. PMID: 29061114 Free PMC article.
The patient's view on rare disease trial design - a qualitative study.
Gaasterland CMW, van der Weide MCJ, du Prie-Olthof MJ, Donk M, Kaatee MM, Kaczmarek R, Lavery C, Leeson-Beevers K, O'Neill N, Timmis O, van Nederveen V, Vroom E, van der Lee JH. Gaasterland CMW, et al. Orphanet J Rare Dis. 2019 Feb 7;14(1):31. doi: 10.1186/s13023-019-1002-z. Orphanet J Rare Dis. 2019. PMID: 30732630 Free PMC article.
16 results