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Publikationen

Suchbegriffe: FABRY DISEASE, . Treffer: 33

2021

Merlo-Mas, J; Tomsen-Melero, J; Corchero, JL; González-Mira, E; Font, A; Pedersen, JN; García-Aranda, N; Cristóbal-Lecina, E; Alcaina-Hernando, M; Mendoza, R; Garcia-Fruitós, E; Lizarraga, T; Resch, S; Schimpel, C; Falk, A; Pulido, D; Royo, M; Schwartz, S; Abasolo, I; Pedersen, JS; Danino, D; Soldevila, A; Veciana, J; Sala, S; Ventosa, N; Córdoba, A Application of Quality by Design to the robust preparation of a liposomal GLA formulation by DELOS-susp method.
J Supercrit Fluids. 2021; 173: 105204 Doi: 10.1016/j.supflu.2021.105204 [OPEN ACCESS]
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2020

Mancuso, M; Arnold, M; Bersano, A; Burlina, A; Chabriat, H; Debette, S; Enzinger, C; Federico, A; Filla, A; Finsterer, J; Hunt, D; Lesnik Oberstein, S; Tournier-Lasserve, E; Markus, HS Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Eur J Neurol. 2020; 27(6):909-927 Doi: 10.1111/ene.14183 [OPEN ACCESS]
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2018

Fabian, E; Schiller, D; Toplak, H; Brunner-Krainz, M; Fazekas, F; Schoefl, R; Krejs, GJ Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.
Wien Klin Wochenschr. 2018; 130(3-4):151-160 Doi: 10.1007/s00508-017-1291-y (- Case Report) [OPEN ACCESS]
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2017

Odler, B; Cseh, Á; Constantin, T; Fekete, G; Losonczy, G; Tamási, L; Benke, K; Szilveszter, B; Müller, V Long time enzyme replacement therapy stabilizes obstructive lung disease and alters peripheral immune cell subsets in Fabry patients.
Clin Respir J. 2017; 11(6): 942-950. Doi: 10.1111/crj.12446
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Thijs, V; Grittner, U; Fazekas, F; McCabe, DJH; Giese, AK; Kessler, C; Martus, P; Norrving, B; Ringelstein, EB; Schmidt, R; Tanislav, C; Putaala, J; Tatlisumak, T; von Sarnowski, B; Rolfs, A; Enzinger, C; Stroke in Fabry (SIFAP1) Investigators Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke.
Stroke. 2017; 48(9):2361-2367 Doi: 10.1161/STROKEAHA.117.017406 [OPEN ACCESS]
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2016

Gaggl, M; Lajic, N; Heinze, G; Voigtländer, T; Sunder-Plassmann, R; Paschke, E; Fauler, G; Sunder-Plassmann, G; Mundigler, G Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.
Int J Med Sci. 2016; 13(5):340-346 Doi: 10.7150/ijms.14997 [OPEN ACCESS]
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2015

Fazekas, F; Enzinger, C; Schmidt, R; Grittner, U; Giese, AK; Hennerici, MG; Huber, R; Jungehulsing, GJ; Kaps, M; Kessler, C; Martus, P; Putaala, J; Ropele, S; Tanislav, C; Tatlisumak, T; Thijs, V; von Sarnowski, B; Norrving, B; Rolfs, A; SIFAP 1 Investigators Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event.
Stroke. 2015; 46(6):1548-1553 Doi: 10.1161/STROKEAHA.114.008548 [OPEN ACCESS]
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Gaggl, M; Hofer, M; Weidner, S; Kleinert, J; Fauler, G; Wallner, M; Kotanko, P; Paschke, E; Sunder-Plassmann, G Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.
J Nephrol. 2015; 28(6):679-689 Doi: 10.1007/s40620-015-0193-1
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Thijs, V; Grittner, U; Dichgans, M; Enzinger, C; Fazekas, F; Giese, AK; Kessler, C; Kolodny, E; Kropp, P; Martus, P; Norrving, B; Ringelstein, EB; Rothwell, PM; Schmidt, R; Tanislav, C; Tatlisumak, T; von Sarnowski, B; Rolfs, A; Stroke in Fabry Investigators Family History in Young Patients With Stroke.
Stroke. 2015; 46(7):1975-1978 Doi: 10.1161/STROKEAHA.115.009341 [OPEN ACCESS]
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2014

Drechsler, C; Schmiedeke, B; Niemann, M; Schmiedeke, D; Krämer, J; Turkin, I; Blouin, K; Emmert, A; Pilz, S; Obermayer-Pietsch, B; Weidemann, F; Breunig, F; Wanner, C Potential role of vitamin D deficiency on Fabry cardiomyopathy.
J Inherit Metab Dis. 2014; 37(2):289-295 Doi: 10.1007/s10545-013-9653-8 [OPEN ACCESS]
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Kaps, M; Grittner, U; Jungehülsing, G; Tatlisumak, T; Kessler, C; Schmidt, R; Jukka, P; Norrving, B; Rolfs, A; Tanislav, C; sifap1 Investigators Clinical signs in young patients with stroke related to FAST: results of the sifap1 study.
BMJ Open. 2014; 4(11):e005276-e005276 Doi: 10.1136/bmjopen-2014-005276 [OPEN ACCESS]
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Machann, W; Geier, O; Koeppe, S; O'Donnell, T; Greiser, A; Breunig, F; Sandstede, J; Hahn, D; Koestler, H; Beer, M Reproducibility of manual and semi-automated late enhancement quantification in patients with Fabry disease.
Acta Radiol. 2014; 55(2):155-160 Doi: 10.1177/0284185113505275
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2013

Kropp, P; Holzhausen, M; Kolodny, E; Becker, U; Dichgans, M; Diez-Tejedor, E; Enzinger, C; Fazekas, F; Fuentes, B; Karpinska, A; Meyer, W; Tanislav, C; Böttcher, T; Rolfs, A; Stroke in Young Fabry Patients (sifap) Investigators Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "Stroke in Young Fabry Patients (SIFAP1) study".
J Neural Transm. 2013; 120(10):1433-1440 Doi: 10.1007/s00702-013-1014-0
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Rolfs, A; Fazekas, F; Grittner, U; Dichgans, M; Martus, P; Holzhausen, M; Böttcher, T; Heuschmann, PU; Tatlisumak, T; Tanislav, C; Jungehulsing, GJ; Giese, AK; Putaala, J; Huber, R; Bodechtel, U; Lichy, C; Enzinger, C; Schmidt, R; Hennerici, MG; Kaps, M; Kessler, C; Lackner, K; Paschke, E; Meyer, W; Mascher, H; Riess, O; Kolodny, E; Norrving, B; Stroke in Young Fabry Patients (sifap) Investigators Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Stroke. 2013; 44(2):340-349 Doi: 10.1161/STROKEAHA.112.663708 [OPEN ACCESS]
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von Sarnowski, B; Putaala, J; Grittner, U; Gaertner, B; Schminke, U; Curtze, S; Huber, R; Tanislav, C; Lichy, C; Demarin, V; Basic-Kes, V; Ringelstein, EB; Neumann-Haefelin, T; Enzinger, C; Fazekas, F; Rothwell, PM; Dichgans, M; Jungehulsing, GJ; Heuschmann, PU; Kaps, M; Norrving, B; Rolfs, A; Kessler, C; Tatlisumak, T; sifap1 Investigators Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study.
Stroke. 2013; 44(1):119-125 Doi: 10.1161/STROKEAHA.112.665190 [OPEN ACCESS]
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2012

Porubsky, S; Speak, AO; Salio, M; Jennemann, R; Bonrouhi, M; Zafarulla, R; Singh, Y; Dyson, J; Luckow, B; Lehuen, A; Malle, E; Müthing, J; Platt, FM; Cerundolo, V; Gröne, HJ Globosides but not isoglobosides can impact the development of invariant NKT cells and their interaction with dendritic cells.
J Immunol. 2012; 189(6):3007-3017 Doi: 10.4049/jimmunol.1201483 [OPEN ACCESS]
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Weidemann, F; Niemann, M; Sommer, C; Beer, M; Breunig, F; Wanner, C Interdisciplinary approach towards female patients with Fabry disease
Eur J Clin Invest. 2012; 42(4):455-462 Doi: 10.1111/j.1365-2362.2011.02614.x (- Case Report) [OPEN ACCESS]
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Zampetti, A; Orteu, CH; Antuzzi, D; Bongiorno, MR; Manco, S; Gnarra, M; Morrone, A; Cardinali, G; Kovacs, D; Aspite, N; Linder, D; Parini, R; Feliciani, C; Interdisciplinary Study Group on Fabry Disease (ISGF) Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.
Br J Dermatol. 2012; 166(4): 712-720. Doi: 10.1111/j.1365-2133.2012.10742.x
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2011

Fellgiebel, A; Keller, I; Martus, P; Ropele, S; Yakushev, I; Böttcher, T; Fazekas, F; Rolfs, A Basilar artery diameter is a potential screening tool for fabry disease in young stroke patients.
Cerebrovasc Dis. 2011; 31(3): 294-299. Doi: 10.1159/000322558
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Mundigler, G; Gaggl, M; Heinze, G; Graf, S; Zehetgruber, M; Lajic, N; Voigtländer, T; Mannhalter, C; Sunder-Plassmann, R; Paschke, E; Fauler, G; Sunder-Plassmann, G The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy.
Eur J Echocardiogr. 2011; 12(10):744-749 Doi: 10.1093/ejechocard/jer112 [OPEN ACCESS]
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Niemann, M; Breunig, F; Beer, M; Hu, K; Liu, D; Emmert, A; Herrmann, S; Ertl, G; Wanner, C; Takenaka, T; Tei, C; Weidemann, F Tei Index in Fabry Disease
J Am Soc Echocardiogr. 2011; 24(9):1026-1032 Doi: 10.1016/j.echo.2011.05.021
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Niemann, M; Herrmann, S; Hu, K; Breunig, F; Strotmann, J; Beer, M; Machann, W; Voelker, W; Ertl, G; Wanner, C; Weidemann, F Differences in Fabry Cardiomyopathy Between Female and Male Patients Consequences for Diagnostic Assessment
JACC Cardiovasc Imaging. 2011; 4(6):592-601 Doi: 10.1016/j.jcmg.2011.01.020 [OPEN ACCESS]
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Paschke, E; Fauler, G; Winkler, H; Schlagenhauf, A; Plecko, B; Erwa, W; Breunig, F; Urban, W; Vujkovac, B; Sunder-Plassmann, G; Kotanko, P Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
Am J Kidney Dis. 2011; 57(5):673-681 Doi: 10.1053/j.ajkd.2010.10.046
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Rolfs, A; Martus, P; Heuschmann, PU; Grittner, U; Holzhausen, M; Tatlisumak, T; Böttcher, T; Fazekas, F; Enzinger, C; Ropele, S; Schmidt, R; Riess, O; Norrving, B Protocol and Methodology of the Stroke in Young Fabry Patients (sifap1) Study: A Prospective Multicenter European Study of 5,024 Young Stroke Patients Aged 18-55 Years.
Cerebrovasc Dis. 2011; 31(3): 253-262. Doi: 10.1159/000322153
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Tanislav, C; Kaps, M; Rolfs, A; Böttcher, T; Lackner, K; Paschke, E; Mascher, H; Laue, M; Blaes, F Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
Eur J Neurol. 2011; 18(4):631-636 Doi: 10.1111/j.1468-1331.2010.03227.x
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2009

Kleinert, J; Kotanko, P; Spada, M; Pagliardini, S; Paschke, E; Paul, K; Voigtländer, T; Wallner, M; Kramar, R; Stummvoll, HK; Schwarz, C; Horn, S; Holzer, H; Födinger, M; Sunder-Plassmann, G Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
Transpl Int. 2009; 22(3):287-292 Doi: 10.1111/j.1432-2277.2008.00791.x (- Case Report) [OPEN ACCESS]
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Weidemann, F; Niemann, M; Breunig, F; Herrmann, S; Beer, M; Stork, S; Voelker, W; Ertl, G; Wanner, C; Strotmann, J Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment
Circulation. 2009; 119(4):524-529 Doi: 10.1161/CIRCULATIONAHA.108.794529 [OPEN ACCESS]
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Weidemann, F; Strotmann, JM; Niemann, M; Herrmann, S; Wilke, M; Beer, M; Voelker, W; Ertl, G; Emmert, A; Wanner, C; Breunig, F HEART VALVE INVOLVEMENT IN FABRY CARDIOMYOPATHY
Ultrasound Med Biol. 2009; 35(5):730-735 Doi: 10.1016/j.ultrasmedbio.2008.10.010
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2005

Fauler, G; Rechberger, GN; Devrnja, D; Erwa, W; Plecko, B; Kotanko, P; Breunig, F; Paschke, E Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.
Rapid Commun Mass Spectrom. 2005; 19(11):1499-1506 Doi: 10.1002/rcm.1948
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2004

Kotanko, P; Kramar, R; Devrnja, D; Paschke, E; Voigtländer, T; Auinger, M; Pagliardini, S; Spada, M; Demmelbauer, K; Lorenz, M; Hauser, AC; Kofler, HJ; Lhotta, K; Neyer, U; Pronai, W; Wallner, M; Wieser, C; Wiesholzer, M; Zodl, H; Födinger, M; Sunder-Plassmann, G Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.
J Am Soc Nephrol. 2004; 15(5):1323-1329 Doi: 10.1097/01.ASN.0000124671.61963.IE [OPEN ACCESS]
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2003

Lorenz, M; Hauser, AC; Püspök-Schwarz, M; Kotanko, P; Arias, I; Zodl, H; Kramar, R; Paschke, E; Voigtländer, T; Sunder-Plassmann, G Anderson-Fabry disease in Austria.
Wien Klin Wochenschr. 2003; 115(7-8):235-240 Doi: 10.1007/BF03040321 (- Case Report)
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Weidemann, F; Breunig, F; Beer, M; Sandstede, J; Turschner, O; Voelker, W; Ertl, G; Knoll, A; Wanner, C; Strotmann, JM Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease - A prospective strain rate imaging study
Circulation. 2003; 108(11):1299-1301 Doi: 10.1161/01.CIR.0000091253.71282.04 [OPEN ACCESS]
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2002

Kroepfl, T; Paul, K; Kotanko, P; Plecko, B; Paschke, E A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
J Inherit Metab Dis. 2002; 25(8):695-696 Doi: 10.1023/A:1022833332162 (- Case Report)
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