Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Hartmann Wellhoefer"'
Autor:
Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacologica
Externí odkaz:
https://doaj.org/article/5477d878e2a34a8fbe566add29f16e5a
Autor:
Roberto Giugliani, Stephanie Westwood, Hartmann Wellhoefer, Jörn Schenk, Andrey Gurevich, Christoph Kampmann
Publikováno v:
Genetics and Molecular Biology, Vol 41, Iss 4, Pp 790-793 (2018)
Abstract Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate t
Externí odkaz:
https://doaj.org/article/8d61fd436d7c41f18c022969467f7c3e
Autor:
Tanya Collin-Histed, Zoya Panahloo, Kurt Ullrich, Uma Ramaswami, Hartmann Wellhoefer, Joseph Muenzer, Roberto Giugliani, Atul Mehta, Joel Frader
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
BackgroundLysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacological chaperon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff23346154b900bfd56edc97bce7324
Publikováno v:
Molecular Genetics and Metabolism Reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd70c54e62ea2f56c84afd16eb01899
http://europepmc.org/articles/PMC6462757
http://europepmc.org/articles/PMC6462757
Autor:
Stephanie Westwood, Christoph Kampmann, Hartmann Wellhoefer, Andrey Gurevich, Roberto Giugliani, Jörn Magnus Schenk
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.41 n.4 2018
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 41, Issue: 4, Pages: 790-793, Published: 11 OCT 2018
Genetics and Molecular Biology, Vol 41, Iss 4, Pp 790-793 (2018)
Genetics and Molecular Biology, Issue: ahead, Published: 11 OCT 2018
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.41 n.4 2018
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 41, Issue: 4, Pages: 790-793, Published: 11 OCT 2018
Genetics and Molecular Biology, Vol 41, Iss 4, Pp 790-793 (2018)
Genetics and Molecular Biology, Issue: ahead, Published: 11 OCT 2018
Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b84ffead0aeca38119f43520b81d300
Autor:
Mehta, Atul1 (AUTHOR) atul.mehta1@nhs.net, Ramaswami, Uma1 (AUTHOR), Muenzer, Joseph2 (AUTHOR), Giugliani, Roberto3 (AUTHOR), Ullrich, Kurt4 (AUTHOR), Collin-Histed, Tanya5 (AUTHOR), Panahloo, Zoya6 (AUTHOR), Wellhoefer, Hartmann6 (AUTHOR), Frader, Joel7 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 1/6/2021, Vol. 16 Issue 1, p1-10. 10p.