Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anne Kathrin Giese"'
Autor:
Christian Tanislav, Dursun Guenduez, Christoph Liebetrau, Anne Kathrin Giese, Sabrina Eichler, Nicole Sieweke, Maria Speth, Timm Bauer, Christian Hamm, Arndt Rolfs
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157640 (2016)
Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the dia
Externí odkaz:
https://doaj.org/article/8c2c0f45f7364a38a9bbabd338b9435b
Autor:
Sabrina Eichler, Christian W. Hamm, Maria Speth, Christoph Liebetrau, Arndt Rolfs, Nicole Sieweke, Timm Bauer, Christian Tanislav, Anne Kathrin Giese, Dursun Guenduez
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 6, p e0157640 (2016)
PLoS ONE, Vol 11, Iss 6, p e0157640 (2016)
Objectives Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d6087790d89e7d17bdb2598a164c9e5
https://pubmed.ncbi.nlm.nih.gov/27322070
https://pubmed.ncbi.nlm.nih.gov/27322070
Autor:
Anne Kathrin Giese, Frank Breunig, Markus Niemann, Frank Weidemann, Christoph Wanner, Georg Ertl, Arndt Rolfs, Hermann Mascher
Publikováno v:
JIMD Reports ISBN: 9783642324413
The X-chromosomal-linked lysosomal storage disorder Fabry disease can lead to life-threatening manifestations. The pathological significance of the Fabry mutation D313Y is doubted, because, in general, D313Y patients do not present clinical manifesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe78c002e2c20e36c096130af9f675c2
https://doi.org/10.1007/8904_2012_154
https://doi.org/10.1007/8904_2012_154
