Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jörg, Reinke"'
Autor:
Eugen Mengel, Jens Gaedeke, Holger Gothe, Simon Krupka, Anja Lachmann, Jörg Reinke, Christoph Ohlmeier
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0244279 (2020)
BackgroundLysosomal Storage Diseases (LSD) are rare and multisytemic diseases which are caused by lysosomal enzyme deficiencies leading into accumulation of waste products due to an interruption in the decomposition process. Due to the low prevalence
Externí odkaz:
https://doaj.org/article/f4c3d738e57b4f46879b16f32d437bfa
Autor:
Tatiana Bremova-Ertl, Raphael Schiffmann, Marc C. Patterson, Nadia Belmatoug, Thierry Billette de Villemeur, Stanislavs Bardins, Claudia Frenzel, Věra Malinová, Silvia Naumann, Juliane Arndt, Eugen Mengel, Jörg Reinke, Ralf Strobl, Michael Strupp
Publikováno v:
Frontiers in Neurology, Vol 8 (2018)
ObjectivesTo evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oc
Externí odkaz:
https://doaj.org/article/e951439e63c94560817fdfdcf87b1473
Autor:
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162612 (2016)
Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and
Externí odkaz:
https://doaj.org/article/2dedd23d21294f65bddd54f588e6479e
Autor:
Gundula Staatz, Christoph Düber, K. Laudemann, Jörg Reinke, André Lollert, Eugen Mengel, M Brixius-Huth, Larissa Moos, Julia B. Hennermann, C Hoffmann
Publikováno v:
Klinische Pädiatrie. 231:52-59
We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement the
Autor:
Simon Krupka, H Gothe, Jens Gaedeke, Christoph Ohlmeier, Jörg Reinke, Anja Lachmann, Eugen Mengel
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0244279 (2020)
PLoS ONE
PLoS ONE
Background Lysosomal Storage Diseases (LSD) are rare and multisytemic diseases which are caused by lysosomal enzyme deficiencies leading into accumulation of waste products due to an interruption in the decomposition process. Due to the low prevalenc
Publikováno v:
Journal of Neurology. 263:2260-2270
We investigated whether vestibular dysfunction may cause or contribute to postural imbalance and falls in patients with Niemann-Pick type C disease (NP-C). Eight patients with NP-C disease and 20 healthy controls were examined using the video-based h
Autor:
Jörg Reinke, Michael Strupp, Věra Malinová, Miriam Kolníková, Eugen Mengel, Yasmina Amraoui, Tatiana Bremova
Publikováno v:
Neurology. 85:1368-1375
Objective: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. Methods: Twelve patients with NP-C disease were treated w
Autor:
Tatiana, Bremova-Ertl, Raphael, Schiffmann, Marc C, Patterson, Nadia, Belmatoug, Thierry, Billette de Villemeur, Stanislavs, Bardins, Claudia, Frenzel, Věra, Malinová, Silvia, Naumann, Juliane, Arndt, Eugen, Mengel, Jörg, Reinke, Ralf, Strobl, Michael, Strupp
Publikováno v:
Frontiers in Neurology
Objectives To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find o
Autor:
Marlene Seegräber, Julia B. Hennermann, Martin Smitka, Jörg Reinke, Eugen Mengel, Seyfullah Gökce, Skadi Beblo, Eduard Paschke, Laila Arash-Kaps, Yasmina Amraoui, Andrea Dieckmann
Publikováno v:
Molecular Genetics and Metabolism. 123:S62
Autor:
Maja Di Rocco, Tanya Collin-Histed, Rosella Parini, Carla E. M. Hollak, Ari Zimran, Bruno Bembi, Laura van Dussen, Eugen Mengel, Timothy M. Cox, Helen Michelakakis, Stephan vom Dahl, Pilar Giraldo, Anna Tylki-Szymańska, Johannes M. F. G. Aerts, Nadia Belmatoug, Jeremy Manuel, M. Hrebicek, Miguel Pocovi, Maria Clara Sa Miranda, Jörg Reinke, Patrick Deegan, Yossi Cohen
Publikováno v:
Blood cells, molecules & diseases, 44(1), 41-47. Academic Press Inc.
Gaucher disease is the first lysosomal disorder for which clinically effective enzyme replacement therapy has been introduced. Lifelong treatment with imiglucerase, the recombinant glucocerebrosidase manufactured by the Genzyme Corporation (MA, USA),