Weber, P; Pabst, B; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG; Wrodnigg, TM
Cyclopentanoid D-Galactosidase Inhibitors and potential Pharmacological Chaperones for GM1-Gangliosidosis
29th International Carbohydrate Symposium; Jul 14-19, 2017; Lisbon, PORTUGAL. 2018.
[Poster]
Weber, P; Pabst, B; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Windischhofer, W; Wolfsgruber, A; Wrodnigg, TM
CYCLOPENTANOID N-ACETYL-β-D-HEXOSAMINIDASE INHIBITORS.
29th International Carbohydrate Symposium; Jul 14-19, 2018; Lisbon, PORTUGAL. 2018.
[Poster]
Wolfsgruber, A; Nasseri, SA; Pabst, B; Paschke, E; Schalli, M; Stütz, AE; Torvisco Gomez, A; Müller, P; Tschernutter, M; Weber, P; Windischhofer, W; Withers, SG; Wrodnigg, TM
FURANOID CARBASUGARS AS GH 20 HEXOSAMINIDASE INHIBITORS AND POTENTIAL PHARMACOLOGICAL CHAPERONES.
29th International Carbohydrate Symposium; Jul 14-19, 2018; Lisbon, PORTUGAL. 2018.
[Poster]
Lebl, R; Schalli, M; Tysoe, C; Pabst, B; Paschke, E; Stütz, AE; Tschernutter, M; Weber, P; Windischhofer, W; Withers, SG; Wrodnigg, TM; Zoidl, M
A Morita-Baylis-Hillman Based de novo Synthesis of 5a-C-Pentyl-4-epi-Isofagomine - A Powerful Pharmacological Chaperone for GM1-Gangliosidosis.
21st Austrian Carbohydrate Workshop; Feb 16-17, 2017; Graz, AUSTRIA. 2017.
[Oral Communication]
Lebl, R; Thonhofer, M; Tysoe, C; Pabst, B; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Weber, P; Windischhofer, W; Withers, SG; Wrodnigg, TM; Zoidl, M
Synthesis of 5a-C-Extended 4-epi-Isofagomine Derivatives from D-Glyceraldehyde – Powerful Pharmacological Chaperones for GM1-Gangliosidosis.
19th European Carbohydrate Symposium; Jul 3-6, 2017; Barcelona, SPAIN. 2017.
[Poster]
Schalli, M; Thonhofer, M; Lebl, R; Weber, P; Tysoe, C; Pabst, B; Paschke, E; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG; Wrodnigg, TM; Zoidl, M
Experimental Pharmacological Chaperones for Lysosomal Glycosidase Mutants.
19th European Carbohydrate Symposium; Jul 3-6, 2017; Barcelona, SPAIN. 2017.
[Poster]
Schalli, M; Weber, P; Tysoe, C; Pabst, B; Lebl, R; Paschke, E; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG; Wrodnigg, TM; Zoidl, M
N-Substituted 5-amino-1-hydroxymethyl-Cyclopentanetriols: A new Family of Promotors for GM1-Gangliosidosis Related Human Lysosomal β-Galactosidase Mutants.
19th European Carbohydrate Symposium; Jul 3-6, 2017; Barcelona, SPAIN. 2017.
[Poster]
Weber, P; Lebl, R; Müller, S; Pabst, B; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Tysoe, C; Windischhofer, W; Withers, SG; Wrodnigg, TM; Zoidl, M
Furanoid Carbasugars as Hexosaminidase Inhibitors and Potential Pharmacological Chaperones.
19th European Carbohydrate Symposium; Jul 3-6, 2017; Barcelona, SPAIN. 2017.
[Poster]
Schalli, M; Fischer, R; Gonzalez Santana, A; Hojnik, C; Paschke, E; Stütz, AE; Thonhofer, M; Withers, SG; Wrodnigg, TM; Zoidl, M
GLYCOLIPID MIMETICS: LIPOPHILIC CARBASUGARS AS INHIBITORS AND CHEMICAL CHAPERONES FOR GM1 GANGLIOSIDOSIS.
23rd International Symposium on Glycoconjugates; Sep 15-20, 2015; Split, CROATIA. 2015.
[Poster]
Stütz, AE; Fischer, R; Gonzalez Santana, A; Hojnik, C; Paschke, E; Schalli, M; Thonhofer, M; Torvisco Gomez, A; Withers, SG; Wrodnigg, TM; Zoidl, M
GLYCOLIPID MIMETICS: FLUORINE CONTAINING ISOIMINOSUGARS AS CHEMICAL CHAPERONES FOR GM1 GANGLIOSIDOSIS AND FABRY´S DISEASE.
23rd International Symposium on Glycoconjugates; Sep 15-20, 2015; Split, CROATIA. 2015.
[Poster]
Thonhofer, M; Fischer, R; Gonzalez-Santana, A; Hojnik, C; Paschke, E; Schalli, M; Stütz, AE; Weber, P; Withers, SG; Wrodnigg, TM; Zoidl, M
GLYCOLIPID MIMETICS: LIPOPHILIC 4-EPI-ISOFAGOMINE DERIVATIVES AS CHEMICAL CHAPERONES FOR GM1-GANGLIOSIDOSIS AND MORQUIO B.
23rd International Symposium on Glycoconjugates; Sep 15-20, 2015; Split, CROATIA. 2015.
[Poster]
Sperl, D; Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C
CD3/CD19-DEPLETIERTE AND CD3/TCR-alpha/beta-DEPLETIERTE PERIPHERAL STEM CELL TRANSPLANTATION AFTER CONDITIONING WITH THIOTEPA, FLUDARABINE, TREOSULFAN AND ATG IN CONGENITAL METABOLIC DISORDERS
TRANSPL INT. 2014; 27: 4-4.-Austrotransplant,28. Tagung der Österr. Ges. f. Transplantation, Transfusion und Genetik ; OCT 15-18, 2014; Bad Ischl,AUSTRIA .
[Oral Communication]
Web of Science
Sperl,D; Schwinger,W; Sovinz,P; Benesch,M; Lackner,H; Seidel,M; Strenger,V; Raicht,A; Brunner-Krainz,M; Paschke,E; Plecko,B; Urban,C
CD3/CD9-depletierte und CD3/TCR-alpha/beta-depletierte periphere Stammzelltransplantation nach Konditionierung mit Thiotepa,Fludarabin,Treosulfan und ATG bei angeborenen Stoffwechselstörungen.
Transplant International. 2014; 27 (suppl 4): 4-4.-AUSTROTRANSPLANT 2014; OCT 15-17,2014; Bad Ischl,AUSTRIA .
[Oral Communication]
Stütz, AE; Hojnik, C; Paschke, E; Schalli, M; Thonhofer, M; Withers, SG; Wrodnigg, TM; Zoidl, M
Synthesis and Biological Evaluation of Potential Therapeutic Compounds for GM1 Gangliosidosis.
97th Canadian Chemistry Conference and Exhibition; Jun 1-5, 2014; Vancouver, CANADA. 2014.
[Poster]
Alexander, G; van Karnebeek, C; Stockler-Ipsiroglu, S; Paschke, E
The MorquioBetter Project: Global patient registry for Morquio syndrome type B disease and late-onset GM1-gangliosidosis
MOL GENET METAB. . 2013; 108(2):S18-S19.-9th Annual World Symposium of the Lysosomal-Disease-Network (LDN); FEB 12-15, 2013; Orlando, FL.
Doi: 10.1016/j.ymgme.2012.11.020
[Poster]
Web of Science
FullText
FullText_MUG
Rabensteiner, DF; Wagner, J; Borkenstein, A; Horwath-Winter, J; Weger, M; Heidinger, A; Paschke, E; Greilberger, J; Obermayer-Pietsch, B; Stojakovic, T; Aberer, E; Schmut, O; Smolle, J
Interdisciplinary teaching and small group lessons within the special study module - "Connective tissue diseases, diagnosis and treatment." of the curriculum of medicine at the Medical University of Graz
Abstract Book of 17th Graz Conference on Medical Education. 2013; 76-78.-17th Graz Conference on Medical Education - Teaching Medical Skills; APR 4-6, 2013; Vienna, AUSTRIA.
[Poster]
Gaggl, M; Weidner, S; Hofer, M; Kleinert, J; Fauler, G; Wallner, M; Kotanko, P; Sunder-Plassmann, G; Paschke, E;
PREDICTORS OF URINARY GLOBOTRIAOSYLCERAMIDE (GB3) EXCRETION IN PATIENTS WITH CHRONIC KIDNEY DISEASE.
NEPHROL DIALYSIS TRANSPLANT. . 2012; 27: 322-323.-49th Congress of the European-Renal-Association/European-Dialysis-and-Transplant-Association (ERA-EDTA); MAY 24-27, 2012; Paris, FRANCE.
[Poster]
Web of Science
Kern, I; Plecko, B; Paschke, E; Korff, C; Fluss, J
EARLY DIAGNOSIS OF PYRIDOXAL-5 '-PHOSPHATE OXIDASE (PNPO) DEFICIENCY AND OUTCOME AT 8 MONTHS
J INHERIT METAB DIS. . 2012; 35: S135-S135.
[Poster]
Web of Science
Sovinz, P; Schwinger, W; Lackner, H; Benesch, M; Strenger, V; Seidel, M; Sperl, D; Schmidt, S; Plecko, B; Brunner-Krainz, M; Paschke, E; Urban, C
Allogeneic stem cell transplantation for mucopolysaccaridosis I Hurler with unrelated CD3/19 depleted peripheral stem cell grafts
Frühjahrestagung 2012 der Österreichischen Gesellschaft für Hämatologie & Onkologie ; APRIL 12-14,2012 ; Graz. 2012.
[Poster]
Sovinz, P; Schwinger,W; Lackner, H; Benesch, M; Strenger, V; Seidel, M; Sperl, D; Schmidt, S; Plecko, B; Brunner-Krainz, M; Paschke, E; Urban, C
Hämatopoietische Stammzelltransplantation bei Mucopolysaccharidose I Hurler mit unverwandtem CD3/19-depletierten peripheren Stammzellen.
Monatsschrift Kinderheilkunde. 2012; 160: -50. Jahrestagung der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde; Sept 27-29, 2012; Salzburg, AUSTRIA.
[Poster]
van Karnebeek, CD; Hartmann, H; Mahmutoglu, S; Das, A; Cheng, B; Giezen, A; Meyer, U; Struys, E; Jakobs, C; van der Lee, JH; Paschke, E; Plecko, B; Stockler, S;
THE LYSINE RESTRICTED DIET AS NOVEL ADD-ON THERAPY FOR PYRIDOXINE DEPENDENT EPILEPSY: PILOT STUDY RESULTS.
J INHERIT METAB DIS. 2012; 35: S134-S134.
Web of Science
Cvitanovic-Sojat, C; Gjergja, JR; Sabourdy, F; Fensom, AH; Fumic, K; Paschke, E; Levade, T
NOVEL HOMOZYGOUS ASAH1 MUTATION IN FARBER LIPOGRANULOMATOSIS TYPE 1 IN A CROATIAN BOY WITH LATE PRESENTATION AND EARLY DEATH
J INHERIT METAB DIS. 2010; 33: S126-S126.
[Poster]
Web of Science
E.Paschke
Methoden der Genetischen und Biochemischen Diagnose von Morbus Fabry
10 Jahre Enzymersatztherapie bei Morbus Fabry; 12.06.2010; Wien. 2010.
[Oral Communication]
Fauler, G; H.Winkler, A.Schlagenhauf, G, M.Wallner, Sunder-Plassmann, M.Wallner, P.Kotanko, E. Paschke
An ESI-MS-method for the determination of urinary globotriaosylceramides in Fabry disease
1st International Pediatric Biomarker Symposium ; FEB 4-6, 2010; Innsbruck, AUSTRIA. 2010.
[Oral Communication]
FullText
Paschke E
Analysis of Globotriaosylceramide (Gb3) in Urine
5th SIFAP Investigator Meeting; MAY 1-2, 2010; Berlin, GERMANY. 2010.
[Oral Communication]
Paschke E
Analysis of Globotriaosylceramide in Urine
3rd SIFAP Publication Meeting; JUN 4, 2010; Frankfurt, GERMANY. 2010.
[Oral Communication]
Bodamer, OA; Hung, C; Muhl, A; Ratschmann, R; Paschke, E; Waldhoer, T; Fekete, A; Szczerbak, B
THREONINE SUPPLEMENTATION IN PHENYLKETONURIA
MOL GENET METAB. 2009; 98(1-2):234-
[Poster]
Web of Science
Fantur, K; Hofer, D; Schitter, G; Wrodnigg, T; Stütz, AE; Paschke, E
Die Dosis macht das Gift: Iminozucker-Inhibitoren lysosomaler Enzyme oder pharmakologische Chaperones in lysosomalen Speicherkrankheiten.
13. Österreichischer Kohlenhydratworkshop; FEB 19, 2009; Graz, AUSTRIA. 2009.
[Oral Communication]
Fantur, K; Hofer, D; Schitter, G; Wrodnigg, T; Stütz AE; Paschke, E
IMINOANALOGA DER GALAKTOSE - PHARMAKOLOGISCHE CHAPERONE FÜR DIE THERAPIE VON GM1- GANGLIOSIDOSE?
35. Jahrestagung der Gesellschaft für Neuropädiatrie; APR 23-26, 2009; Graz, Österreich. 2009.
[Oral Communication]
Hofer, D; Fantur, K; Paul, K; Plecko, B; Paschke, E
GM1 GANGLIOSIDOSE UND MORQUIO TYP B: EXPRESSION VON MISSENSE-MUTATIONEN DES KATALYTISCHEN ZENTRUMS DER SAUREN ß-GALAKTOSIDASE.
Neuropediatrics 2009; 40: -35. Jahrestagung der Gesellschaft für Neuropädiatrie; APR 23-26, 2009; GRAZ, Österreich.
[Poster]
Mercimek-Mahmutoglu, S; Lillquist, Y; Davis, J; Reilly, C; Human, D; Waters, PJ; Paschke, E; Clarke, LA; Stoeckler-Ipsiroglu, S
Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type IH prior to hematopoietic stem cell transplantation.
MOL GENET METAB. 2009; 96(2):89--4th Annual World Symposium of the Lysosomal-Disease-Network; FEB 13-15, 2009; Las Vegas, NV.
Doi: 10.1016/j.ymgme.2008.11.090
[Poster]
Web of Science
FullText
FullText_MUG
Paschke, E
SCREENING FOR ELEVATED URINARY GB3 EXCRETION BY ESI-MASS SPECTROMETRY: EXPERIENCE AND PITFALLS.
European Consensus Committee on Diagnostics in Fabry Disease; First Expert meeting "Diagnostic use and value of Gb3 and lysoGb3 in Fabry disease" ; APR 22-23, 2009; Bad Nauheim, GERMANY. 2009.
[Oral Communication]
Plecko, BR; Paul, K; Struys, E; Paschke, E; Stockler-Ipsiroglu, SG; Erwa, W; Jakobs, C
MOLECULAR ANALYSIS OF 54 PATIENTS WITH PYRIDOXINE DEPENDENT EPILEPSY DUE TO ANTIQUITIN DEFICIENCY
MOL GENET METAB. 2009; 98(1-2):125-
[Poster]
Web of Science
Schlagenhauf, A; Fauler, G; Paschke, E;
Comparative evaluation of two ESI-MS methods aiming at screening urinary globotriaosylceramide excretion
1st styrian Conference on Lipid Mass Spectrometry; OCT 21-22, 2009; Graz,AUSTRIA. 2009.
[Poster]
Brunner-Krainz, M; Harmatz P, Paschke E, Rödl S, Pfleger A, Eber E, Zach M, Plecko B
Seven years experience of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B in an 18 year old male with MPS VI (Maroteaux - Lamy)
Neuropediatrics. 2008; 39: 79--34. Tagung der Gesellschaft für Neuropädiatrie; 3.-5. April 2008; Jena.
[Poster]
Paschke, E; Hofer, D; Fantur, K; Paul, K; Morrone, A; d'Azzo, A
Expression analysis in cos-1 cells of missense alleles of the glb1 (acid beta-galactosidase) gene with presumptive influence on catalytical enzyme function.
J INHERIT METAB DIS. 2008; 31: 126-126.-Annual Symposium of the Society for the Study of Inborn Errors of Metabolism ; SEP 2-5, 2008; Lisboa, Portugal.
Web of Science
Augoustides-Savvopoulou, P; Badouraki, M; Michelakakis, H; Ioannou, H; Chatzisevastou-Loukidou, H; Paschke, E
Unilateral limb pain an unsuspected cause of Morquio type IVB (MPS IVB)
J INHERIT METAB DIS. 2007; 30: 100-100.-SSIEM Society for the Study of Inborn Errors of Metabolism; SEPT 4-7, 2007; Hamburg, GERMANY.
[Poster]
Web of Science
Brunner-Krainz, M; Harmatz, P; Pfleger, A; Eber, E; Zach, M; Rodl, S; Paschke, E; Plecko, B
Six years experience of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB) in an 18 year old male with MPS VI (Maroteaux-Lamy)
J INHERIT METAB DIS. 2007; 30: 116-116.-SSIEM Society for the Study of Inborn Erros of Metabolism; SEPT 4-7, 2007; Hamburg, GERMANY.
[Poster]
Web of Science
Paschke, E; Fauler, G; Urban, W; Plecko, B; Erwa, W; Vujkovac, B; Breunig, F; Sunder-Plassmann, G; Kotanko, P
Female fabry patients can be discriminated from healthy and nephropathic non-fabry subjects by an analysis of globotriaosylceramide isoforms in urine.
NEPHROL DIALYSIS TRANSPLANT. 2007; 22: 29-30.-XLIV Congress of the European Renal Association European Dialysis and Transplant Association (ERA-EDTA) 2007 ; JUNE, 21-24; Barcelona, SPAIN.
[Poster]
Web of Science
Paschke E, Fauler G, Urban W, Plecko B, Erwa W, Vujkovac B, Breunig F, Sunder-Plassmann G, Kotanko P
Isoforms of Globotriaosylceramide in Urine Can Be Used To Identify Female Fabry Patients.
16th ESGLD Workshop- European Study Group of Lysosomal Diseases; SEPT 27-30; Perugia, ITALY. 2007.
[Oral Communication]
FullText
Paschke, E; Paul, K; Erwa, W; Plecko, B
Genotyping of patients with pyridoxin-dependent epilepsy (PDE) by RT-PCR in cDNA of leukocytes is disturbed by an antiquitin pseudogene
J INHERIT METAB DIS. 2007; 30: 132-132.-SSIEM-Society for the Study of Inborn Errors of Metabolism; SEPT 4-7, 2007; Hamburg, GERMANY.
[Poster]
Web of Science
Paschke, E; Paul, K; Erwa, W; Plecko, P
Genotyping of Patients with Pyrodoxin-dependent epiöepsy (PDE) by RT-PCR in cDNA of Leucocytes is disturbed by an Antiquitin psudogene.
The American Society of Human Genetics-57th Annual Meeting; OCT 23-27, 2007; San Diego, USA. 2007.
[Poster]
Plecko, B; Paul K; Struys, E.; Jakobs, C; Stoeckler-Ipsiroglu, S; Erwa, W; Baethmann, M; Gatta, A; Gyoergy, I; Horvath, G; Kluger, G; Neubauer, B; Panzer, A; Scheffner, T; Van Coster, R; Vlaho, S; Paschke, E
Molecular characterization of 31 patietns with pyridoxine-dependent epilepsy (PDE)
The American Society of Human Genetics-57th Annual Meeting; OCT 23-27, 2007; San Diego, USA. 2007.
[Poster]
FullText
Paschke, E; Gregoric-Kumperscak, H; Flies, B; Paul, K; Erwa, W
Quantitative tandem mass spectrometry of urinary sulphatides can be essential for the diagnosis of adult metachromatic leukodystrophy
ACTA PAEDIAT. ; 95: 142-142.- ; 2006; .
[Oral Communication]
Web of Science
Plecko, B; Paul, K; Paschke, E; Erwa, W; Hartmann, H; Luecke, T; Di Capua, M; Anti, G; Korenke, C; Hikel, C; Seidl, R; Bosch, F; Baumeister, F; Stoeckler-Ipsiroglu, S
Pipecolic acid concentrations and molecular analysis of the antiquitin (ALDH7 A1) gene in patients with pyridoxine-dependent epilepsy
J INHERIT METAB DIS. ; 29: 78-78.
[Poster]
Web of Science
Plecko, B; Paul, K; Paschke, E; Erwa, W; Hartmann, H; Luecke, T; Di Capua, M; Seganti, G; Korenke, C; Hikel, C; Seidl, R; Stokler-Ipsiroglu, S
Pipecolic acid concentrations and molecular analysis of the antiquitin (ALDH7 A1) gene in patients with pyridoxine-dependent epilepsy
EPILEPSIA. ; 47: 89-89.
[Poster]
Web of Science
Ezgu, FS; Gunduz, M; Tumer, L; Fatih, A; Paschke, E; Hasanodlu, A
TWO CASES OF GM1 GANGLIOSIDOSIS WITH NOVEL MUTATIONS
J INHERIT METAB DIS. 2005; 28: 157-157.
Web of Science
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
J INHERIT METAB DIS. 2005; 28: 161-161.
Web of Science
Paschke, E; Czapka, M; Paul, K; Erwa, W
Mutation screening in lysosomal enzyme genes by real-time monitoring of melting behavior in oligosaccharides labeled with SYBR green
EUR J HUMAN GENET 2002 10: 197-198.
Web of Science
Kozicz, ET; Toth, G; Paschke, E; Jackson, KE; Kosztolanyi, G
I-cell disease in a patient with unusual biochemical findings.
AMER J HUM GENET 1999 65: A426-A426.
Web of Science
Schmuth, M; Weber, F; Paschke, E; Sepp, N; Fritsch, P
Delayed epidermal barrier repair in patients with sphingomyelinase deficiency (Niemann Pick disease)
J INVEST DERMATOL 1999 112: 542-542.
Web of Science
Windischhofer, W; Paschke, E
Receptor-mediated endocytosis of the B-2 bradykinin receptor-system and bradykinin-induced signal transduction in human fibroblasts deficient in plasmalogens
NAUNYN-SCHMIED ARCH PHARMACOL 1997 356: 9-9.
Web of Science
Stöckler, S; Gamillscheg, A; Kleinert, R; Reisinger, A; Ketelsen, UP; Müller, W; Molzer, B; Paschke, E;
Myopathy in an infant with a peroxisomal disorder.
20. Skand. Neuropädiatrie-Tagung; JUN 1-4, 1989; Uddevalla, SCHWEDEN. 1989.
[Keynote lecture]