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Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.
Ramaswami U, D'Amore S, Finnegan N, Hughes D, Kazemi M; Lysosomal Disorders Team, Royal Free London NHS Foundation Trust. Ramaswami U, et al. Among authors: d amore s, hughes d. Intern Med J. 2021 Oct;51(10):1580-1593. doi: 10.1111/imj.15473. Epub 2021 Sep 23. Intern Med J. 2021. PMID: 34487419 Free PMC article. Review.
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.
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.
Belmatoug N, Di Rocco M, Fraga C, Giraldo P, Hughes D, Lukina E, Maison-Blanche P, Merkel M, Niederau C, Plӧckinger U, Richter J, Stulnig TM, Vom Dahl S, Cox TM. Belmatoug N, et al. Among authors: hughes d. Eur J Intern Med. 2017 Jan;37:25-32. doi: 10.1016/j.ejim.2016.07.011. Epub 2016 Aug 10. Eur J Intern Med. 2017. PMID: 27522145 Free article. Review.
Fabry disease and incidence of cancer.
Bird S, Hadjimichael E, Mehta A, Ramaswami U, Hughes D. Bird S, et al. Among authors: hughes d. Orphanet J Rare Dis. 2017 Sep 6;12(1):150. doi: 10.1186/s13023-017-0701-6. Orphanet J Rare Dis. 2017. PMID: 28877708 Free PMC article.
3,896 results