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Items: 1 to 50 of 91

1.

Potent GH20 N-Acetyl-β-d-hexosaminidase Inhibitors: N-Substituted 3-acetamido-4-amino-5-hydroxymethyl-cyclopentanediols.

Weber P, Nasseri SA, Pabst BM, Torvisco A, Müller P, Paschke E, Tschernutter M, Windischhofer W, Withers SG, Wrodnigg TM, Stütz AE.

Molecules. 2018 Mar 20;23(3). pii: E708. doi: 10.3390/molecules23030708.

2.

A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.

Schalli M, Weber P, Tysoe C, Pabst BM, Thonhofer M, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2017 Aug 1;27(15):3431-3435. doi: 10.1016/j.bmcl.2017.05.086. Epub 2017 May 30.

PMID:
28600215
3.

N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.

Schalli M, Tysoe C, Fischer R, Pabst BM, Thonhofer M, Paschke E, Rappitsch T, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 18;443-444:15-22. doi: 10.1016/j.carres.2017.03.009. Epub 2017 Mar 11.

PMID:
28319682
4.

A Morita-Baylis-Hillman based route to C-5a-chain-extended 4-epi-isofagomine type glycosidase inhibitors.

Lebl R, Thonhofer M, Tysoe C, Pabst BM, Schalli M, Weber P, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 10;442:31-40. doi: 10.1016/j.carres.2017.03.003. Epub 2017 Mar 6.

PMID:
28288345
5.

Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.

Gaggl M, Lajic N, Heinze G, Voigtländer T, Sunder-Plassmann R, Paschke E, Fauler G, Sunder-Plassmann G, Mundigler G.

Int J Med Sci. 2016 Apr 26;13(5):340-6. doi: 10.7150/ijms.14997. eCollection 2016.

6.

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.

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.

Carbohydr Res. 2016 Jun 24;429:71-80. doi: 10.1016/j.carres.2016.03.020. Epub 2016 Mar 31.

PMID:
27063389
7.

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.

Thonhofer M, Weber P, Santana AG, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2016 Mar 1;26(5):1438-42. doi: 10.1016/j.bmcl.2016.01.059. Epub 2016 Jan 22.

PMID:
26838810
8.

Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.

Gaggl M, Hofer M, Weidner S, Kleinert J, Fauler G, Wallner M, Kotanko P, Paschke E, Sunder-Plassmann G.

J Nephrol. 2015 Dec;28(6):679-89. doi: 10.1007/s40620-015-0193-1. Epub 2015 Apr 10.

PMID:
25857295
9.

Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.

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.

Pediatr Hematol Oncol. 2014 Nov;31(8):723-30. doi: 10.3109/08880018.2014.939794. Epub 2014 Aug 12.

PMID:
25116402
10.

Pyridoxine responsiveness in novel mutations of the PNPO gene.

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.

Neurology. 2014 Apr 22;82(16):1425-33. doi: 10.1212/WNL.0000000000000344. Epub 2014 Mar 21.

11.

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.

Porri S, Fluss J, Plecko B, Paschke E, Korff CM, Kern I.

Neuropediatrics. 2014 Feb;45(1):64-8. doi: 10.1055/s-0033-1353489. Epub 2013 Sep 25.

PMID:
24297574
12.

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.

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.

Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10.

PMID:
23306324
13.

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene.

Lukas J, Torras J, Navarro I, Giese AK, Böttcher T, Mascher H, Lackner KJ, Fauler G, Paschke E, Cruzado JM, Dudesek A, Wittstock M, Meyer W, Rolfs A.

Clin Kidney J. 2012 Oct;5(5):395-400. doi: 10.1093/ckj/sfs115.

14.

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

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.

J Inherit Metab Dis. 2013 Jan;36(1):7-13. doi: 10.1007/s10545-012-9485-y. Epub 2012 Apr 25.

PMID:
22526846
15.

Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.

Gucev ZS, Tasic V, Sinigerska I, Kremensky I, Tincheva R, Pop-Jordanova N, Danilovski D, Hofer D, Paschke E.

Prilozi. 2011;32(2):187-98.

PMID:
22286622
16.

Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.

Fantur KM, Wrodnigg TM, Stütz AE, Pabst BM, Paschke E.

J Inherit Metab Dis. 2012 May;35(3):495-503. doi: 10.1007/s10545-011-9409-2. Epub 2011 Oct 28.

PMID:
22033734
17.

A fluorescent probe for GM1 gangliosidosis related β-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol.

Fröhlich RF, Fantur K, Furneaux RH, Paschke E, Stütz AE, Wicki J, Withers SG, Wrodnigg TM.

Bioorg Med Chem Lett. 2011 Nov 15;21(22):6872-5. doi: 10.1016/j.bmcl.2011.09.012. Epub 2011 Sep 10.

PMID:
21974950
18.

The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy.

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.

Eur J Echocardiogr. 2011 Oct;12(10):744-9. doi: 10.1093/ejechocard/jer112. Epub 2011 Aug 20.

PMID:
21857019
19.

Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.

Paschke E, Fauler G, Winkler H, Schlagenhauf A, Plecko B, Erwa W, Breunig F, Urban W, Vujkovac B, Sunder-Plassmann G, Kotanko P.

Am J Kidney Dis. 2011 May;57(5):673-81. doi: 10.1053/j.ajkd.2010.10.046. Epub 2010 Dec 24.

PMID:
21186071
20.

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.

Tanislav C, Kaps M, Rolfs A, Böttcher T, Lackner K, Paschke E, Mascher H, Laue M, Blaes F.

Eur J Neurol. 2011 Apr;18(4):631-6. doi: 10.1111/j.1468-1331.2010.03227.x. Epub 2010 Sep 23.

PMID:
20860754
21.

Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.

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, Stütz AE, Wrodnigg TM.

Chembiochem. 2010 Sep 24;11(14):2026-33. doi: 10.1002/cbic.201000192.

22.

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom AH, Fumic K, Paschke E, Levade T.

Eur J Paediatr Neurol. 2011 Mar;15(2):171-3. doi: 10.1016/j.ejpn.2010.06.002. Epub 2010 Jul 7.

PMID:
20609603
23.

Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.

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.

Beilstein J Org Chem. 2010 Mar 1;6:21. doi: 10.3762/bjoc.6.21.

24.

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.

Fantur K, Hofer D, Schitter G, Steiner AJ, Pabst BM, Wrodnigg TM, Stütz AE, Paschke E.

Mol Genet Metab. 2010 Jul;100(3):262-8. doi: 10.1016/j.ymgme.2010.03.019. Epub 2010 Mar 28.

PMID:
20409738
25.

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E.

Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11.

PMID:
20175788
26.

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E.

Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031.

PMID:
19472408
27.

Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, Wörle H, Plecko B.

Neuropediatrics. 2008 Oct;39(5):276-9. doi: 10.1055/s-0029-1202833. Epub 2009 Mar 17.

PMID:
19294602
28.

1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.

Steiner AJ, Schitter G, Stütz AE, Wrodnigg TM, Tarling CA, Withers SG, Fantur K, Mahuran D, Paschke E, Tropak M.

Bioorg Med Chem. 2008 Dec 15;16(24):10216-20. doi: 10.1016/j.bmc.2008.10.054. Epub 2008 Oct 26.

29.

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.

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.

Transpl Int. 2009 Mar;22(3):287-92. doi: 10.1111/j.1432-2277.2008.00791.x. Epub 2008 Oct 24.

30.

Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.

Kumperscak HG, Plesnicar BK, Zalar B, Gradisnik P, Seruga T, Paschke E.

Psychiatr Genet. 2007 Apr;17(2):85-91.

PMID:
17413447
31.

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

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.

Hum Mutat. 2007 Jan;28(1):19-26.

PMID:
17068770
32.

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.

Tokic V, Barisic I, Huzjak N, Petkovic G, Fumic K, Paschke E.

Eur J Pediatr. 2007 Jul;166(7):727-32. Epub 2006 Oct 17.

PMID:
17043838
33.

Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.

Kroepfl T, Mair E, Deutsch J, Brunner-Krainz M, Paschke E, Plecko B.

J Inherit Metab Dis. 2006 Aug;29(4):593. Epub 2006 Jun 19.

PMID:
16786254
34.

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.

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.

J Inherit Metab Dis. 2005;28(5):743-57.

PMID:
16151906
35.

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

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.

Mov Disord. 2005 Oct;20(10):1366-9. Review.

PMID:
15986423
36.

Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.

Fauler G, Rechberger GN, Devrnja D, Erwa W, Plecko B, Kotanko P, Breunig F, Paschke E.

Rapid Commun Mass Spectrom. 2005;19(11):1499-506.

PMID:
15880667
37.

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.

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.

J Inherit Metab Dis. 2005;28(2):187-202.

PMID:
15877208
38.

Mucopolysaccharidosis type II in females: case report and review of literature.

Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA.

Pediatr Neurol. 2005 Apr;32(4):270-2. Review.

PMID:
15797184
39.

Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.

Kumperscak HG, Paschke E, Gradisnik P, Vidmar J, Bradac SU.

J Psychiatry Neurosci. 2005 Jan;30(1):33-6.

40.

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

Tomatsu S, Nishioka T, Montaño AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A.

J Med Genet. 2004 Jul;41(7):e98. No abstract available.

41.

Recurrent acroparaesthesia during febrile infections.

Bodamer OA, Ratschmann R, Paschke E, Voigtländer T, Stöckler-Ipsiroglu S.

Lancet. 2004 May 22;363(9422):1698. No abstract available.

PMID:
15158631
42.

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.

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.

J Am Soc Nephrol. 2004 May;15(5):1323-9. Erratum in: J Am Soc Nephrol. 2004 Aug;15(8):1a. J Am Soc Nephrol. 2004 Sep;15(9):A4.

43.

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

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.

Pediatr Res. 2004 Apr;55(4):592-7. Epub 2004 Jan 7.

PMID:
14711889
44.

Infantile sialic acid storage disease and protein-losing gastroenteropathy.

Kirchner L, Kircher S, Salzer-Muhar U, Paschke E, Birnbacher R, Stöckler-Ipsiroglu S.

Pediatr Neurol. 2003 Apr;28(4):313-7.

PMID:
12849889
45.

Anderson-Fabry disease in Austria.

Lorenz M, Hauser AC, Püspök-Schwarz M, Kotanko P, Arias I, Zodl H, Kramar R, Paschke E, Voigtländer T, Sunder-Plassmann G.

Wien Klin Wochenschr. 2003 Apr 30;115(7-8):235-40.

PMID:
12778775
46.

A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.

Kroepfl T, Paul K, Kotanko P, Plecko B, Paschke E.

J Inherit Metab Dis. 2002 Dec;25(8):695-6.

PMID:
12705499
47.

Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report.

Benedik-Dolnicar M, Strmecki L, Paschke E, Steglich C, Kranjc O, Komel R.

Haematologica. 2002 Aug;87(8):ECR30. No abstract available.

PMID:
12161377
48.

The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.

Kroepfl T, Milos I, Paul K, Plecko B, Paschke E.

Clin Genet. 2001 Nov;60(5):393-4. No abstract available.

PMID:
11903343
49.

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.

Paschke E, Milos I, Kreimer-Erlacher H, Hoefler G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis H, Radeva B.

Hum Genet. 2001 Aug;109(2):159-66.

PMID:
11511921
50.

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, Jakobs C.

Ann Neurol. 2000 Jul;48(1):121-5.

PMID:
10894227

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