Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Paschke Eduard |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2020
Originalarbeit (Zeitschrift)
** Weber, P; Thonhofer, M; Averill, S; Davies, GJ; Santana, AG; Müller, P; Nasseri, SA; Offen, WA; Pabst, BM; Paschke, E; Schalli, M; Torvisco, A; Tschernutter, M; Tysoe, C; Windischhofer, W; Withers, SG; Wolfsgruber, A; Wrodnigg, TM; Stütz, AE
Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine.
Molecules. 2020; 25(17):
Doi: 10.3390/molecules25174025
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2019
Originalarbeit (Zeitschrift)
** Arash-Kaps, L; Komlosi, K; Seegräber, M; Diederich, S; Paschke, E; Amraoui, Y; Beblo, S; Dieckmann, A; Smitka, M; Hennermann, JB
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr. 2019; 215(12):152-157
Doi: 10.1016/j.jpeds.2019.08.016
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2018
Originalarbeit (Zeitschrift)
** Weber, P; Nasseri, SA; Pabst, BM; Torvisco, A; Müller, P; Paschke, E; Tschernutter, M; Windischhofer, W; Withers, SG; Wrodnigg, TM; Stütz, AE
Potent GH20 N-Acetyl-β-d-hexosaminidase Inhibitors: N-Substituted 3-acetamido-4-amino-5-hydroxymethyl-cyclopentanediols.
Molecules. 2018; 23(3): 708
Doi: 10.3390/molecules23030708
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2017
Originalarbeit (Zeitschrift)
** Lebl, R; Thonhofer, M; Tysoe, C; Pabst, BM; Schalli, M; Weber, P; Paschke, E; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
A Morita-Baylis-Hillman based route to C-5a-chain-extended 4-epi-isofagomine type glycosidase inhibitors.
Carbohydr Res. 2017; 442(15):31-40
Doi: 10.1016/j.carres.2017.03.003
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** Schalli, M; Tysoe, C; Fischer, R; Pabst, BM; Thonhofer, M; Paschke, E; Rappitsch, T; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.
Carbohydr Res. 2017; 443-444(15):15-22
Doi: 10.1016/j.carres.2017.03.009
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** Schalli, M; Weber, P; Tysoe, C; Pabst, BM; Thonhofer, M; Paschke, E; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.
Bioorg Med Chem Lett. 2017; 27(15):3431-3435
Doi: 10.1016/j.bmcl.2017.05.086
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2016
Originalarbeit (Zeitschrift)
** 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
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** Thonhofer, M; Weber, P; Gonzalez Santana, A; Tysoe, C; Fischer, R; Pabst, BM; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.
Carbohydr Res. 2016; 429(15):71-80
Doi: 10.1016/j.carres.2016.03.020
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** Thonhofer, M; Weber, P; Santana, AG; Fischer, R; Pabst, BM; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.
Bioorg Med Chem Lett. 2016; 26(5):1438-1442
Doi: 10.1016/j.bmcl.2016.01.059
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2015
Originalarbeit (Zeitschrift)
** 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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2014
Originalarbeit (Zeitschrift)
** Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433
Doi: 10.1212/WNL.0000000000000344
[OPEN ACCESS]
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** Porri, S; Fluss, J; Plecko, B; Paschke, E; Korff, CM; Kern, I
Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5 '-Phosphate Oxidase Deficiency: A Case Report
NEUROPEDIATRICS. 2014; 45(1): 64-68.
Doi: 10.1055/s-0033-1353489
(- Case Report)
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** Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Sperl, D; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.
Pediatr Hematol Oncol. 2014; 31(8):723-730
Doi: 10.3109/08880018.2014.939794
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Abstract (Zeitschrift)
** 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
2013
Originalarbeit (Zeitschrift)
** 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
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** Sterl, E; Paul, K; Paschke, E; Zschocke, J; Brunner-Krainz, M; Windisch, E; Konstantopoulou, V; Möslinger, D; Karall, D; Scholl-Bürgi, S; Sperl, W; Lagler, F; Plecko, B
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J Inherit Metab Dis. 2013; 36(1):7-13
Doi: 10.1007/s10545-012-9485-y
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Abstract (Zeitschrift)
** 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]
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2012
Originalarbeit (Zeitschrift)
** Fantur, KM; Wrodnigg, TM; Stütz, AE; Pabst, BM; Paschke, E
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
J Inherit Metab Dis. 2012; 35(3):495-503
Doi: 10.1007/s10545-011-9409-2
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Abstract (Zeitschrift)
** 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]
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** 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
2011
Originalarbeit (Zeitschrift)
** Cvitanovic-Sojat, L; Gjergja Juraski, R; Sabourdy, F; Fensom, AH; Fumic, K; Paschke, E; Levade, T
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
Eur J Paediatr Neurol. 2011; 15(2):171-173
Doi: 10.1016/j.ejpn.2010.06.002
(- Case Report)
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** Fröhlich, RF; Fantur, K; Furneaux, RH; Paschke, E; Stütz, AE; Wicki, J; Withers, SG; Wrodnigg, TM
A fluorescent probe for GM1 gangliosidosis related â-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol.
Bioorg Med Chem Lett. 2011; 21(22):6872-6875
Doi: 10.1016/j.bmcl.2011.09.012
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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
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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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** 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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2010
Originalarbeit (Zeitschrift)
** Fantur, K; Hofer, D; Schitter, G; Steiner, AJ; Pabst, BM; Wrodnigg, TM; Stütz, AE; Paschke, E
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Mol Genet Metab. 2010; 100(3):262-268
Doi: 10.1016/j.ymgme.2010.03.019
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** Hofer, D; Paul, K; Fantur, K; Beck, M; Roubergue, A; Vellodi, A; Poorthuis, BJ; Michelakakis, H; Plecko, B; Paschke, E
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Clin Genet. 2010; 78(3):236-246
Doi: 10.1111/j.1399-0004.2010.01379.x
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** Schitter, G; Scheucher, E; Steiner, AJ; Stütz, AE; Thonhofer, M; Tarling, CA; Withers, SG; Wicki, J; Fantur, K; Paschke, E; Mahuran, DJ; Rigat, BA; Tropak, M; Wrodnigg, TM
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.
Beilstein J Org Chem. 2010; 6(2):21-21
Doi: 10.3762/bjoc.6.21
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** Schitter, G; Steiner, AJ; Pototschnig, G; Scheucher, E; Thonhofer, M; Tarling, CA; Withers, SG; Fantur, K; Paschke, E; Mahuran, DJ; Rigat, BA; Tropak, MB; Illaszewicz, C; Saf, R; Stutz, AE; Wrodnigg, TM
Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.
Chembiochem. 2010; 11(14):2026-2033
Doi: 10.1002/cbic.201000192
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Abstract (Zeitschrift)
** 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
2009
Originalarbeit (Zeitschrift)
** Hofer, D; Paul, K; Fantur, K; Beck, M; Burger, F; Caillaud, C; Fumic, K; Ledvinova, J; Lugowska, A; Michelakakis, H; Radeva, B; Ramaswami, U; Plecko, B; Paschke, E
GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
HUM MUTAT. 2009; 30(8): 1214-1221.
Doi: 10.1002/humu.21031
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Fallbericht
** 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)
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Abstract (Zeitschrift)
** 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
** 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]
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** 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
2008
Originalarbeit (Zeitschrift)
** Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Neuropediatrics. 2008; 39(5):276-279
Doi: 10.1055/s-0029-1202833
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** Steiner, AJ; Schitter, G; Stütz, AE; Wrodnigg, TM; Tarling, CA; Withers, SG; Fantur, K; Mahuran, D; Paschke, E; Tropak, M
1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.
Bioorg Med Chem. 2008; 16(24):10216-10220
Doi: 10.1016/j.bmc.2008.10.054
[OPEN ACCESS]
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Abstract (Zeitschrift)
** 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
2007
Originalarbeit (Zeitschrift)
** Kumperscak, HG; Plesnicar, BK; Zalar, B; Gradisnik, P; Seruga, T; Paschke, E
Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
Psychiatr Genet. 2007; 17(2):85-91
Doi: 10.1097/YPG.0b013e3280298280
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** Plecko, B; Paul, K; Paschke, E; Stoeckler-Ipsiroglu, S; Struys, E; Jakobs, C; Hartmann, H; Luecke, T; di Capua, M; Korenke, C; Hikel, C; Reutershahn, E; Freilinger, M; Baumeister, F; Bosch, F; Erwa, W
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Hum Mutat. 2007; 28(1):19-26
Doi: 10.1002/humu.20433
[OPEN ACCESS]
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** Tokic, V; Barisic, I; Huzjak, N; Petkovic, G; Fumic, K; Paschke, E
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.
Eur J Pediatr. 2007; 166(7):727-732
Doi: 10.1007/s00431-006-0316-8
(- Case Report)
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Abstract (Zeitschrift)
** 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; 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
2006
Originalarbeit (Zeitschrift)
** Kroepfl, T; Mair, E; Deutsch, J; Brunner-Krainz, M; Paschke, E; Plecko, B
Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.
J Inherit Metab Dis. 2006; 29(4):593-593
Doi: 10.1007/s10545-006-0312-1
(- Case Report)
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Abstract (Zeitschrift)
** 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
2005
Originalarbeit (Zeitschrift)
** 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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** Kumperscak, HG; Paschke, E; Gradisnik, P; Vidmar, J; Bradac, SU
Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.
J Psychiatry Neurosci. 2005; 30(1):33-36
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** Roze, E; Paschke, E; Lopez, N; Eck, T; Yoshida, K; Maurel-Ollivier, A; Doummar, D; Caillaud, C; Galanaud, D; Billette de Villemeur, T; Vidailhet, M; Roubergue, A
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Mov Disord. 2005; 20(10):1366-1369
Doi: 10.1002/mds.20593
(- Case Report)
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** Tomatsu, S; Gutierrez, MA; Ishimaru, T; Peña, OM; Montaño, AM; Maeda, H; Velez-Castrillon, S; Nishioka, T; Fachel, AA; Cooper, A; Thornley, M; Wraith, E; Barrera, LA; Laybauer, LS; Giugliani, R; Schwartz, IV; Frenking, GS; Beck, M; Kircher, SG; Paschke, E; Yamaguchi, S; Ullrich, K; Isogai, K; Suzuki, Y; Orii, T; Noguchi, A
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.
J Inherit Metab Dis. 2005; 28(5):743-757
Doi: 10.1007/s10545-005-0069-y
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** Tomatsu, S; Okamura, K; Maeda, H; Taketani, T; Castrillon, SV; Gutierrez, MA; Nishioka, T; Fachel, AA; Orii, KO; Grubb, JH; Cooper, A; Thornley, M; Wraith, E; Barrera, LA; Laybauer, LS; Giugliani, R; Schwartz, IV; Frenking, GS; Beck, M; Kircher, SG; Paschke, E; Yamaguchi, S; Ullrich, K; Haskins, M; Isogai, K; Suzuki, Y; Orii, T; Kondo, N; Creer, M; Okuyama, T; Tanaka, A; Noguchi, A
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.
J Inherit Metab Dis. 2005; 28(2):187-202
Doi: 10.1007/s10545-005-5673-3
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Übersichtsarbeit
** Tuschl, K; Gal, A; Paschke, E; Kircher, S; Bodamer, OA
Mucopolysaccharidosis type II in females: case report and review of literature.
Pediatr Neurol. 2005; 32(4):270-272
Doi: 10.1016/j.pediatrneurol.2004.10.009
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Abstract (Zeitschrift)
** 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
2004
Originalarbeit (Zeitschrift)
** 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
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** Tomatsu, S; Nishioka, T; Montaño, AM; Gutierrez, MA; Pena, OS; Orii, KO; Sly, WS; Yamaguchi, S; Orii, T; Paschke, E; Kircher, SG; Noguchi, A
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
J Med Genet. 2004; 41(7):e98-e98
Doi: 10.1136/jmg.2003.018010
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** Tomatsu, S; Okamura, K; Taketani, T; Orii, KO; Nishioka, T; Gutierrez, MA; Velez-Castrillon, S; Fachel, AA; Grubb, JH; Cooper, A; Thornley, M; Wraith, E; Barrera, LA; Giugliani, R; Schwartz, IV; Frenking, GS; Beck, M; Kircher, SG; Paschke, E; Yamaguchi, S; Ullrich, K; Isogai, K; Suzuki, Y; Orii, T; Kondo, N; Creer, M; Noguchi, A
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
Pediatr Res. 2004; 55(4):592-597
Doi: 10.1203/01.PDR.0000113767.60140.E9
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Korrektur
** Kotanko, P; Kramar, R; Devrnja, D; Paschke, E; Voigtlander, T; Auinger, M; Pagliardini, S; Demmelbauer, PK; Lorenz, M; Hauser, AC; Kofler, HJ; Lhotta, K; Neyer, U; Pronai, W; Wallner, M; Wieser, K; Wiesholzer, M; Zodl, H; Fodinger, M; Sunder-Plassman, G
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. (vol 15, pg 1323, 2004)
J AMER SOC NEPHROL 2004 15: A8-A8.
Doi: 10.1097/01.ASN.0000124671.61963.1E
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2003
Originalarbeit (Zeitschrift)
** Kirchner, L; Kircher, S; Salzer-Muhar, U; Paschke, E; Birnbacher, R; Stöckler-Ipsiroglu, S
Infantile sialic acid storage disease and protein-losing gastroenteropathy.
Pediatr Neurol. 2003; 28(4):313-317
Doi: 10.1016%2FS0887-8994%2802%2900629-X
(- Case Report)
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** 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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2002
Originalarbeit (Zeitschrift)
** 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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Abstract (Zeitschrift)
** 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
2001
Originalarbeit (Zeitschrift)
** Paschke, E; Milos, I; Kreimer-Erlacher, H; Hoefler, G; Beck, M; Hoeltzenbein, M; Kleijer, W; Levade, T; Michelakakis, H; Radeva, B
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Hum Genet. 2001; 109(2):159-166
Doi: 10.1007/s004390100570
(- Case Report)
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Kurzbericht/Letter
** Kroepfl, T; Milos, I; Paul, K; Plecko, B; Paschke, E
The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.
Clin Genet. 2001; 60(5):393-394
Doi: 10.1034/j.1399-0004.2001.600513.x
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2000
Originalarbeit (Zeitschrift)
** Plecko, B; Stöckler-Ipsiroglu, S; Paschke, E; Erwa, W; Struys, EA; Jakobs, C
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Ann Neurol. 2000; 48(1):121-125
Doi: 10.1002/1531-8249(200007)48:1<121::AID-ANA20>3.0.CO;2-V
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1999
Originalarbeit (Zeitschrift)
** Schmid, JA; Mach, L; Paschke, E; Glössl, J
Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes. Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease.
J Biol Chem. 1999; 274(27):19063-19071
Doi: 10.1074%2Fjbc.274.27.19063
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Abstract (Zeitschrift)
** 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
1997
Originalarbeit (Zeitschrift)
** Cragg, H; Williamson, M; Young, E; O'Brien, J; Alhadeff, J; Fang-Kircher, S; Paschke, E; Winchester, B
Fucosidosis: genetic and biochemical analysis of eight cases.
J Med Genet. 1997; 34(2):105-110
Doi: 10.1136/jmg.34.2.105
(- Case Report)
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Editorial
** Plecko, B; Paschke, E
New aspects in diagnosis and therapy of hereditary diseases of the nervous and skeletal systems].
Wien Klin Wochenschr. 1997; 109(3):65-67
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** 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
1995
Originalarbeit (Zeitschrift)
** Breier, F; Hobisch, G; Fang-Kircher, S; Braun, F; Paschke, E; Jurecka, W
Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy.
AMER J DERMATOPATHOL. 1995; 17(4): 379-383.
Doi: 10.1097/00000372-199508000-00013
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** Sedlmayr, P; Plecko, B; Paschke, E; Zenz, W; Ramschak, H; Toplak, H; Wascher, TC; Wilders-Truschnig, M; Stöckler, S
Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil.
J Inherit Metab Dis. 1995; 18(1):101-102
Doi: 10.1007/BF00711394
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Kurzbericht/Note
** Fang-Kircher, SG; Böck, A; Fertschak, W; Schwägerl, W; Paschke, E
Morquio disease in a patient diagnosed as having Perthes disease for 38 years.
J Inherit Metab Dis. 1995; 18(1):94-95
Doi: 10.1007%2FBF00711389
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1994
Originalarbeit (Zeitschrift)
** Holzmann, S; Kukovetz, WR; Windischhofer, W; Paschke, E; Graier, WF
Pharmacologic differentiation between endothelium-dependent relaxations sensitive and resistant to nitro-L-arginine in coronary arteries.
J Cardiovasc Pharmacol. 1994; 23(5):747-756
Doi: 10.1097/00005344-199405000-00009
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** Sperl, W; Bart, G; Vanier, MT; Christomanou, H; Baldissera, I; Steichen-Gersdorf, E; Paschke, E
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
J INHERIT METAB DIS . 1994; 17(1): 93-103.
Doi: 10.1007/BF00735404
(- Case Report)
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1993
Originalarbeit (Zeitschrift)
** Stöckler, S; Kleinert, R; Ebner, F; Paschke, E
Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus.
Pediatr Radiol. 1993; 23(5):353-354
Doi: 10.1007/BF02011955
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Kurzbericht/Note
** Malle, E; Leis, HJ; Steinmetz, A; Paschke, E; Hoefler, G
Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.
CLIN CHIM ACTA. 1993; 217(2): 205-212.
Doi: 10.1016/0009-8981(93)90167-3
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1992
Originalarbeit (Zeitschrift)
** Paschke, E; Gruber, W; Ring, E; Sperl, W
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.
J Inherit Metab Dis. 1992; 15(1):47-56
Doi: 10.1007/BF01800343
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** Paschke, E; Stöckler, S
Strategies for the diagnosis of lysosomal storage diseases: symptoms, methods and samples
WIEN KLIN WOCHENSCHR. 1992; 104(21): 658-664.
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1991
Originalarbeit (Zeitschrift)
** Hoefler, G; Paschke, E; Hoefler, S; Moser, AB; Moser, HW
Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage.
J Clin Invest. 1991; 88(6):1873-1879
Doi: 10.1172/JCI115509
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1990
Originalarbeit (Zeitschrift)
** Jellinger, K; Paulus, W; Grisold, W; Paschke, E
New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy.
CLIN NEUROPATHOL. 1990; 9(4): 163-169.
(- Case Report)
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** Kurz, R; Kenner, T; Reiterer, F; Schenkeli, R; Haidmayer, R; Stöckler, S; Paschke, E
Factors involved in the pathogenesis of unexpected near miss events of infants (ALTE).
Acta Paediatr Hung. 1990; 30(3-4):435-447
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** Sperl, W; Gruber, W; Quatacker, J; Monnens, L; Thoenes, W; Fink, FM; Paschke, E
Nephrosis in two siblings with infantile sialic acid storage disease.
EUR J PEDIAT. 1990; 149(7): 477-482.
Doi: 10.1007/BF01959399
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1989
Originalarbeit (Zeitschrift)
** ROSCHER, A; HOFLER, S; HOFLER, G; PASCHKE, E; PALTAUF, F; MOSER, A; MOSER, H
GENETIC COMPLEMENTATION ANALYSIS IN PEROXISOMAL DISORDERS
J CLIN CHEM CLIN BIOCHEM. 1989; 27: 304-305.
Web of Science
** Roscher, AA; Hoefler, S; Hoefler, G; Paschke, E; Paltauf, F; Moser, A; Moser, H
Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.
Pediatr Res. 1989; 26(1):67-72
Doi: 10.1203/00006450-198907000-00019
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Übersichtsarbeit
** Stöckler, S; Ipsiroglu, OS; Paschke, E
Congenital metabolic diseases as a cause of acute illnesses in the neonatal period
KLIN PADIAT. 1989; 201(5): 369-372.
Doi: 10.1055/s-2008-1026729
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Kurzbericht/Note
** Forstner, M; Freytag, K; Paschke, E
A simple, one-step synthesis of N-acetyl-9-O-acetylneuraminic acid by enzymic transesterification mediated by porcine pancreas lipase in pyridine.
CARBOHYD RES. 1989; 193(1): 294-295.
Doi: 10.1016/0008-6215(89)85130-4
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1988
Originalarbeit (Zeitschrift)
** Hoefler, G; Harnoncourt, F; Paschke, E; Mirtl, W; Pfeiffer, KH; Kostner, GM
Lipoprotein Lp(a). A risk factor for myocardial infarction.
ARTERIOSCLEROSIS-J VASC BIOL. 1988; 8(4): 398-401.
Doi: 10.1161/01.ATV.8.4.398
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** Stöckler, S; Klopf, M; Pokits, P; Erwa, W; Kurz, R; Paschke, E
A simple concept for the screening of amino- and organic acidurias.
J Inherit Metab Dis. 1988; 11(4):432-433
Doi: 10.1007/BF01800438
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1987
Originalarbeit (Zeitschrift)
** Deutsch, J; Becker, H; Dubs, R; Mutz, I; Paschke, E; Schober, P; Maurer, G; Fueger, GF
Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency
WIEN KLIN WOCHENSCHR. 1987; 99: 84-91.
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** Paschke, E; Höfler, G; Roscher, A
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
J Inherit Metab Dis. 1987; 10(1):48-51
Doi: 10.1007/BF01799487
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1986
Originalarbeit (Zeitschrift)
** Paschke, E; Höfler, G; Roscher, A
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts.
Pediatr Res. 1986; 20(8):773-777
Doi: 10.1203/00006450-198608000-00015
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** Paschke, E; Trinkl, G; Erwa, W; Pavelka, M; Mutz, I; Roscher, A
Infantile type of sialic acid storage disease with sialuria.
Clin Genet. 1986; 29(5):417-424
Doi: 10.1111/j.1399-0004.1986.tb00514.x
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1984
Originalarbeit (Zeitschrift)
** Schmut, O; Mallinger, R; Paschke, E
Studies on a distinct fraction of bovine vitreous body collagen.
Graefes Arch Clin Exp Ophthalmol. 1984; 221(6):286-289
Doi: 10.1007/BF02134125
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1981
Originalarbeit (Zeitschrift)
** Mlekusch, W; Paletta, B; Truppe, W; Paschke, E; Grimus, R
Plasma concentrations of glucose, corticosterone, glucagon and insulin and liver content of metabolic substrates and enzymes during starvation and additional hypoxia in the rat.
HORMONE METAB RES. 1981; 13(11): 612-614.
Doi: 10.1055/s-2007-1019352
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1980
Originalarbeit (Zeitschrift)
** Groebe, H; Krins, M; Schmidberger, H; von Figura, K; Harzer, K; Kresse, H; Paschke, E; Sewell, A; Ullrich, K
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
AMER J HUM GENET. 1980; 32(2): 258-272.
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