Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Frank Breunig"'
Autor:
Andreas D Kistler, Justyna Siwy, Frank Breunig, Praveen Jeevaratnam, Alexander Scherl, William Mullen, David G Warnock, Christoph Wanner, Derralynn A Hughes, Harald Mischak, Rudolf P Wüthrich, Andreas L Serra
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e20534 (2011)
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging. No diagnostic test, other than sequencing of the alpha-galactosidase
Externí odkaz:
https://doaj.org/article/4596ac9f92c4499ea0df20e143c39816
Autor:
Sebastian Toncar, Thomas Schmiedeke, Thomas Vogl, Nils Pollak, Michael Leidig, Beatrix Büschges-Seraphin, Marianne Kleinert, Cord Schneuzer, Christina Klaeffling, Clemens Grupp, Christoph Blaser, Susanne Berweck, Rüdiger Götz, Stefan Fischer, Andreas Schmitt, Bettina Wirth, Frank Breunig, Markus Ketteler, Hendrick Witsch, Frank Strutz, Uwe Malzahn, Oliver Jung, Markus Schneider, Julian Gebhardt, Jan Goßmann, Mohamed Marwan, Holger Naujoks, Mara Dörken, L. Schramm, Ewelina Sobkowiak, Michael Heckel, Joanna Harazny, Arnfried Klingbeil, J Zimmermann, Maria Moritz, Heribert Fink, Raoul Zeltner, Patrick Biggar, Rolf Janka, Ahmet Cakmak, Stefan Büttner, Christoph Betz, Fabian Hammer, Heike Schneider, Sarah Rudolf, Beate Schamberger, Imke Reimer, Claudius Kleinert, Michael Brunner, Sabine Schütterle, Susanne Schwedler, Vera Krane, Thorsten Klink, Sophie Richter, Christian Ritter, Markus Schöffauer, Tilo Freiwald, Helmut Geiger, Ulrike Raff, Benjamin-Florian Koch, Renate Hammerstingl, Thomas Bochannek, Joachim Hoyer, Wolfgang Freisinger, Paul Würmell, Daniel Sollinger, Vladimir Vasiljuk, Michael Schmid, Clemens Reichert, Jens Lutz, Stefan Störk, Reinhard Schneider, Andrea Heyd-Schramm, Thomas Döltz, Brigitte Moye, Kai-Olaf Netzer, Kai-Uwe Eckardt, Jurij Ribel, Christoph Wanner, Julian Donhauser, Thorsten Walther, Julia Weinmann-Menke, Judith Kosowski
Publikováno v:
Kidney International. 95:983-991
Mineralocorticoid receptor antagonists have beneficial effects on left ventricular remodeling, cardiac fibrosis, and arrhythmia in heart failure, but efficacy and safety in dialysis patients is less clear. We evaluated the effect of spironolactone on
Autor:
Christoph Wanner, Arndt Rolfs, Frank Breunig, Frank Weidemann, Meinrad Beer, Georg Ertl, Markus Niemann, Stefan Störk, Bart Bijnens
Publikováno v:
Circulation: Cardiovascular Genetics. 7:8-16
Background— Currently, no method is available to identify α-galactosidase A (agalA) mutations determining clinically relevant Fabry disease. In our largest European Fabry cohort, we investigated whether a biomarker, specific for the defect, could
Autor:
Meinrad Beer, Sebastian Herrmann, Claudia Sommer, Frank Breunig, Stefan Störk, Christoph Wanner, Georg Ertl, Markus Niemann, Frank Weidemann
Publikováno v:
Journal of Internal Medicine
Objective The long-term effects of enzyme-replacement therapy (ERT) in Fabry disease are unknown. Thus, the aim of this study was to determine whether ERT in patients with advanced Fabry disease affects progression towards ‘hard’ clinical end-poi
Autor:
Henning Neubauer, Frank Breunig, Christoph Wanner, Frank Weidemann, Dietbert Hahn, Jörn Sandstede, Wolfram Machann, Herbert Köstler, Sabrina Koeppe, Meinrad Beer
Publikováno v:
International Journal of Cardiology. 160:53-58
Background Fabry cardiomyopathy is characterized by left ventricular (LV) hypertrophy and regional fibrosis. Recent high-end echocardiography studies of selected LV sections suggest an interrelation between regional fibrosis, impaired function, and h
Autor:
Meinrad Beer, Herbert Köstler, Stefan Neubauer, Jörn Sandstede, Frank Breunig, Wolfram Machann, Frank Weidemann, Dietbert Hahn, Christoph Wanner
Aims In vitro studies have shown impairment of energy metabolism in cardiac fibroblasts from Fabry patients. A recent in vivo study reported an association between cardiac energy metabolism and increased myocardial mass in Fabry patients. We therefor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469e41f34319985290982130b95bdf39
https://doi.org/10.1093/eurjhf/hfq211
https://doi.org/10.1093/eurjhf/hfq211
Autor:
Claudia Sommer, Frank Breunig, Lan He, Ann-Kathrin Kahn, Dorothee Schönfeld, Max J. Hilz, Nurcan Üçeyler, Karlheinz Reiners
Publikováno v:
Journal of the Peripheral Nervous System. 16:304-314
Fabry disease (FD) is an X-linked lysosomal storage disorder which may lead to impaired peripheral nerve function, mostly affecting small nerve fibers, and to neuropathic pain. Characteristics of the neuropathy associated with FD and the covariates f
Autor:
Christoph Wanner, Meinrad Beer, Frank Breunig, Markus Niemann, Claudia Sommer, Frank Weidemann
Publikováno v:
European Journal of Clinical Investigation. 42:455-462
Eur J Clin Invest 2012; 42 (4): 455–462 Abstract Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Design Being X-chromosomal-linked,
Autor:
H Koestler, Meinrad Beer, Frank Weidemann, Wolfram Machann, W Wuest, C. Wanner, Frank Breunig, D Hahn
Publikováno v:
RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren. 183:1037-1042
PURPOSE According to echocardiography reports, Fabry cardiomyopathy not only affects the left ventricle (LV) but also the right ventricle (RV). Until now no MRI studies about the effect of enzyme replacement therapy (ERT) on the RV are available. We
Autor:
Christoph Wanner, Kai Hu, Meinrad Beer, Wolfram Voelker, Sebastian Herrmann, Frank Breunig, Jörg Strotmann, Wolfram Machann, Georg Ertl, Markus Niemann, Frank Weidemann
Publikováno v:
JACC: Cardiovascular Imaging. 4:592-601
Objectives We hypothesized that Fabry cardiomyopathy in female patients might differ substantially from that in male patients and sought to prove this hypothesis in a large cohort consisting of 104 patients with Fabry disease. Background Fabry cardio