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Pseudoxanthoma elasticum.
Germain DP. Germain DP. Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. Orphanet J Rare Dis. 2017. PMID: 28486967 Free PMC article. Review.
Fabry disease.
Germain DP. Germain DP. Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. Orphanet J Rare Dis. 2010. PMID: 21092187 Free PMC article. Review.
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF. Germain DP, et al. Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91. Orphanet J Rare Dis. 2012. PMID: 23176611 Free PMC article. Clinical Trial.
Ehlers-Danlos syndrome type IV.
Germain DP. Germain DP. Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. Orphanet J Rare Dis. 2007. PMID: 17640391 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. Among authors: germain dp. 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.
291 results