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Eduard Paschke

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Elisabeth Sterl; Eva Windisch; Johannes Zschocke; Sabine Scholl-Bürgi; Wolfgang Sperl; Michaela Brunner-Krainz; Daniela Karall; Vassiliki Konstantopoulou; Florian Lagler; Dorothea Möslinger; Eduard Paschke; Karl Paul; Barbara Plecko
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Katrin M Fantur; Bettina M Pabst; Arnold E Stütz; Tanja M Wrodnigg; Eduard Paschke
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
Z S Gucev; Doris Hofer; I Kremensky; Nada Pop-Jordanova; I Sinigerska; Velibor Tasic; R Tincheva; D Danilovski; Eduard Paschke
Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.

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2013: Elisabeth Sterl; Eva Windisch; Johannes Zschocke; Sabine Scholl-Bürgi; Wolfgang Sperl; Michaela Brunner-Krainz; Daniela Karall; Vassiliki Konstantopoulou; Florian Lagler; Dorothea Möslinger; Eduard Paschke; Karl Paul; Barbara Plecko
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Journal of inherited metabolic disease 2013;36(1):7-13.
2012: Katrin M Fantur; Bettina M Pabst; Arnold E Stütz; Tanja M Wrodnigg; Eduard Paschke
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
Journal of inherited metabolic disease 2012;35(3):495-503.
2011: Z S Gucev; Doris Hofer; I Kremensky; Nada Pop-Jordanova; I Sinigerska; Velibor Tasic; R Tincheva; D Danilovski; Eduard Paschke
Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za biološki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences 2011;32(2):187-98.
2011: Richard F G Fröhlich; Richard H Furneaux; Eduard Paschke; Arnold E Stütz; Jacqueline Wicki; Stephen G Withers; Katrin Fantur; Tanja M Wrodnigg
A fluorescent probe for GM1 gangliosidosis related β-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol.
Bioorganic & medicinal chemistry letters 2011;21(22):6872-5.
2011: Gerald Mundigler; Eduard Paschke; Raute Sunder-Plassmann; Till Voigtländer; Manfred Zehetgruber; Günter Fauler; Martina Gaggl; Senta Graf; Georg Heinze; Natalija Lajic; Christine Mannhalter; Gere Sunder-Plassmann
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy.
European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology 2011;12(10):744-9.
2011: Eduard Paschke; Guenter Fauler; Heimo Winkler; Axel Schlagenhauf; Barbara Plecko; Wolfgang Erwa; Frank Breunig; Wolfgang Urban; Bojan Vujkovac; Gere Sunder-Plassmann; Peter Kotanko
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2011;57(5):673-81.
2010: Georg Schitter; Andreas J Steiner; Gerit Pototschnig; Elisabeth Scheucher; Martin Thonhofer; Chris A Tarling; Stephen G Withers; Katrin Fantur; Eduard Paschke; Don J Mahuran; Brigitte A Rigat; Michael B Tropak; Carina Illaszewicz; Robert Saf; Arnold E Stütz; Tanja M Wrodnigg
Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.
Chembiochem : a European journal of chemical biology 2010;11(14):2026-33.
2010: Doris Hofer; K Paul; K Fantur; M Beck; A Roubergue; A Vellodi; B J Poorthuis; Helen Michelakakis; Barbara Plecko; Eduard Paschke
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Clinical genetics 2010;78(3):236-46.
2010: Katrin Fantur; Doris Hofer; Georg Schitter; Andreas J Steiner; Bettina M Pabst; Tanja M Wrodnigg; Arnold E Stütz; Eduard Paschke
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Molecular genetics and metabolism 2010;100(3):262-8.
2010: Georg Schitter; Elisabeth Scheucher; Andreas J Steiner; Arnold E Stütz; Martin Thonhofer; Chris A Tarling; Stephen G Withers; Jacqueline Wicki; Katrin Fantur; Eduard Paschke; Don J Mahuran; Brigitte A Rigat; Michael Tropak; Tanja M Wrodnigg
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.
Beilstein journal of organic chemistry 2010;6():21.
2009: Doris Hofer; Karl Paul; Katrin Fantur; Michael Beck; Friederike Bürger; Catherine Caillaud; Ksenija Fumic; Jana Ledvinova; Agnieszka Lugowska; Helen Michelakakis; Briguita Radeva; Uma Ramaswami; Barbara Plecko; Eduard Paschke
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Human mutation 2009;30(8):1214-21.
2009: Julia Kleinert; Peter Kotanko; Marco Spada; Severo Pagliardini; Eduard Paschke; Karl Paul; Till Voigtländer; Manfred Wallner; reinhard kramar; Hans-Krister Stummvoll; Christoph Schwarz; Sabine Horn; Herwig Holzer; Manuela Födinger; Gere Sunder-Plassmann
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
Transplant international : official journal of the European Society for Organ Transplantation 2009;22(3):287-92.
2008: Andreas J Steiner; Georg Schitter; Arnold E Stütz; Tanja M Wrodnigg; Chris A Tarling; Stephen G Withers; Katrin Fantur; Don Mahuran; Eduard Paschke; Michael Tropak
1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.
Bioorganic & medicinal chemistry 2008;16(24):10216-20.
2008: G Kluger; R Blank; K Paul; Eduard Paschke; E Jansen; C Jakobs; H Wörle; B Plecko
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Neuropediatrics 2008;39(5):276-9.
2007: Visnja Tokic; Barisic ingeborg; Nevenka Huzjak; Giorgie Petkovic; Ksenija Fumic; Eduard Paschke
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.
European journal of pediatrics 2007;166(7):727-32.
2007: Hojka Gregoric Kumperscak; Blanka Kores Plesnicar; Bostjan Zalar; Peter Gradisnik; Tomaz Seruga; Eduard Paschke
Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
Psychiatric genetics 2007;17(2):85-91.
2007: Barbara Plecko; Karl Paul; Eduard Paschke; Sylvia Stoeckler-Ipsiroglu; Eduard A Struys; Cornelis Jakobs; Hans Hartmann; Thomas Luecke; Matteo di Capua; Christoph Korenke; Christiane Hikel; Elke Reutershahn; Michael Freilinger; Fritz Baumeister; Friedrich Bosch; Wolfgang Erwa
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Human mutation 2007;28(1):19-26.
2006: Th Kroepfl; E Mair; J Deutsch; M Brunner-Krainz; Eduard Paschke; Barbara Plecko
Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.
Journal of inherited metabolic disease 2006;29(4):593.
2005: Emmanuel Roze; Eduard Paschke; Nathalie Lopez; Thomas Eck; Kunihiro Yoshida; Annie Maurel-Ollivier; Diane Doummar; Catherine Caillaud; Damien Galanaud; Thierry Billette de Villemeur; Marie Vidailhet; Anne Roubergue
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Movement disorders : official journal of the Movement Disorder Society 2005;20(10):1366-9.
2005: Karin Tuschl; Andreas Gal; Eduard Paschke; Susanne Kircher; Olaf Bodamer
Mucopolysaccharidosis type II in females: case report and review of literature.
Pediatric neurology 2005;32(4):270-2.
2005: Shunji Tomatsu; Monica A Gutierrez; T Ishimaru; O M Peña; Adriana Montaño; H Maeda; Susana Velez-Castrillon; Tatsuo Nishioka; Angela Aguirres Fachel; Alan Cooper; Margaret Thornley; Ed Wraith; L A Barrera; L S Laybauer; Roberto Giugliani; Ida V Schwartz; G Schulze Frenking; M Beck; Susanne Kircher; Eduard Paschke; Seiji Yamaguchi; K Ullrich; Koji Isogai; Yasuyuki Suzuki; Tadao Orii; Akihiko Noguchi
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.
Journal of inherited metabolic disease 2005;28(5):743-57.
2005: Günter Fauler; Gerald N Rechberger; Danijela Devrnja; Wolfgang Erwa; Barbara Plecko; Peter Kotanko; Frank Breunig; Eduard Paschke
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.
Rapid communications in mass spectrometry : RCM 2005;19(11):1499-506.
2005: S Tomatsu; K Okamura; H Maeda; T Taketani; S V Castrillon; M A Gutierrez; T Nishioka; Angela Aguirres Fachel; K O Orii; J H Grubb; A Cooper; M Thornley; E Wraith; L A Barrera; L S Laybauer; R Giugliani; I V Schwartz; G Schulze Frenking; M Beck; S G Kircher; Eduard Paschke; S Yamaguchi; K Ullrich; M Haskins; K Isogai; Y Suzuki; T Orii; N Kondo; M Creer; T Okuyama; A Tanaka; A Noguchi
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.
Journal of inherited metabolic disease 2005;28(2):187-202.
2005: Hojka Gregoric Kumperscak; Eduard Paschke; Peter Gradisnik; Jernej Vidmar; Stanislava Umek Bradac
Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.
Journal of psychiatry & neuroscience : JPN 2005;30(1):33-6.
2004: Shunji Tomatsu; Tatsuo Nishioka; Adriana Montaño; Monica A Gutierrez; O S Pena; Koji O Orii; William S Sly; Seiji Yamaguchi; Tadao Orii; Eduard Paschke; Susanne Kircher; Akihiko Noguchi
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Journal of medical genetics 2004;41(7):e98.
2004: Olaf Bodamer; Rene Ratschmann; Eduard Paschke; Till Voigtländer; Sylvia Stöckler-Ipsiroglu
Recurrent acroparaesthesia during febrile infections.
Lancet 2004;363(9422):1698.
2004: Peter Kotanko; reinhard kramar; Danijela Devrnja; Eduard Paschke; Till Voigtländer; Martin Auinger; Severo Pagliardini; Marco Spada; Klaus Demmelbauer; Matthias Lorenz; Anna-Christine Hauser; Hans-Jörg Kofler; Karl Lhotta; Ulrich Neyer; Wolfgang Pronai; Michael Wallner; Clemens Wieser; Martin Wiesholzer; Herbert Zodl; Manuela Födinger; Gere Sunder-Plassmann
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.
Journal of the American Society of Nephrology : JASN 2004;15(5):1323-9.
2004: Shunji Tomatsu; Kazuo Okamura; Takeshi Taketani; Koji O Orii; Tatsuo Nishioka; Monica A Gutierrez; Susana Velez-Castrillon; Angela Aguirres Fachel; Jeffrey H Grubb; Alan Cooper; Margaret Thornley; Ed Wraith; Luis A Barrera; Roberto Giugliani; Ida V Schwartz; Gudrun Schulze Frenking; Michael Beck; Susanne Kircher; Eduard Paschke; Seiji Yamaguchi; Kurt Ullrich; Koji Isogai; Yasuyuki Suzuki; Tadao Orii; Naomi Kondo; Michael Creer; Akihiko Noguchi
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
Pediatric research 2004;55(4):592-7.
2003: Matthias Lorenz; Anna-Christine Hauser; Margot Püspök-Schwarz; Peter Kotanko; Ingrid Arias; Herbert Zodl; reinhard kramar; Eduard Paschke; Till Voigtländer; Gere Sunder-Plassmann
Anderson-Fabry disease in Austria.
Wiener klinische Wochenschrift 2003;115(7-8):235-40.
2003: Lieselotte Kirchner; Susanne Kircher; Ulrike Salzer-Muhar; Eduard Paschke; Robert Birnbacher; Sylvia Stöckler-Ipsiroglu
Infantile sialic acid storage disease and protein-losing gastroenteropathy.
Pediatric neurology 2003;28(4):313-7.
2002: Th Kroepfl; K Paul; Peter Kotanko; Barbara Plecko; Eduard Paschke
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
Journal of inherited metabolic disease 2002;25(8):695-6.
2002: Majda Benedik-Dolnicar; Lana Strmecki; Eduard Paschke; Cordula Steglich; Olga Kranjc; Radovan Komel
Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report.
Haematologica 2002;87(8):ECR30.
2001: Th Kroepfl; I Milos; K Paul; Barbara Plecko; Eduard Paschke
The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.
Clinical genetics 2001;60(5):393-4.
2001: Eduard Paschke; I Milos; Heidemarie Kreimer-Erlacher; Gerald Hoefler; M Beck; M Hoeltzenbein; Wim J Kleijer; T Levade; Helen Michelakakis; B Radeva
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.
Human genetics 2001;109(2):159-66.
2000: Barbara Plecko; Sylvia Stöckler-Ipsiroglu; Eduard Paschke; Wolfgang Erwa; Eduard A Struys; Cornelis Jakobs
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Annals of neurology 2000;48(1):121-5.
1999: J A Schmid; Lukas Mach; Eduard Paschke; Josef Glössl
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.
The Journal of biological chemistry 1999;274(27):19063-71.
1997: Barbara Plecko; Eduard Paschke
[New aspects in diagnosis and therapy of hereditary diseases of the nervous and skeletal systems].
Wiener klinische Wochenschrift 1997;109(3):65-7.
1997: H Cragg; M Williamson; E Young; J O'Brien; J Alhadeff; S Fang-Kircher; Eduard Paschke; Bryan Winchester
Fucosidosis: genetic and biochemical analysis of eight cases.
Journal of medical genetics 1997;34(2):105-10.
1995: Friedrich Breier; G Hobisch; Susanne Fang-Kircher; F Braun; Eduard Paschke; Wolfgang Jurecka
Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy.
The American Journal of dermatopathology 1995;17(4):379-83.
1995: Susanne Fang-Kircher; A Böck; W Fertschak; W Schwägerl; Eduard Paschke
Morquio disease in a patient diagnosed as having Perthes disease for 38 years.
Journal of inherited metabolic disease 1995;18(1):94-5.
1995: A Böck; Susanne Fang-Kircher; F Braun; C Gerdov; Friedrich Breier; Wolfgang Jurecka; Eduard Paschke
Another unusual case of fucosidosis.
Journal of inherited metabolic disease 1995;18(1):93-4.
1995: Peter Sedlmayr; B Plecko; Eduard Paschke; Werner Zenz; H Ramschak; Hermann Toplak; Thomas C Wascher; MM Wilders-Truschnig; S Stöckler
Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil.
Journal of inherited metabolic disease 1995;18(1):101-2.
1994: S Holzmann; WR Kukovetz; W Windischhofer; Eduard Paschke; Wolfgang F. Graier
Pharmacologic differentiation between endothelium-dependent relaxations sensitive and resistant to nitro-L-arginine in coronary arteries.
Journal of cardiovascular pharmacology 1994;23(5):747-56.
1994: Wolfgang Sperl; G Bart; marie T vanier; H Christomanou; Ivo Baldissera; E Steichen-Gersdorf; Eduard Paschke
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
Journal of inherited metabolic disease 1994;17(1):93-103.
1993: Ernst Malle; Hans Jörg Leis; A Steinmetz; Eduard Paschke; Gerald Hoefler
Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.
Clinica chimica acta; international journal of clinical chemistry 1993;217(2):205-12.
1993: S Stöckler; R Kleinert; Franz Ebner; Eduard Paschke
Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus.
Pediatric radiology 1993;23(5):353-4.
1992: Eduard Paschke; W Gruber; Ekkehard Ring; Wolfgang Sperl
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.
Journal of inherited metabolic disease 1992;15(1):47-56.
1992: Eduard Paschke; S Stöckler
[Strategies for the diagnosis of lysosomal storage diseases: symptoms, methods and samples].
Wiener klinische Wochenschrift 1992;104(21):658-64.
1991: Gerald Hoefler; Eduard Paschke; S Hoefler; Ann B Moser; Hugo W Moser
Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage.
The Journal of clinical investigation 1991;88(6):1873-9.
1990: J Loidl; G Schwabe; Eduard Paschke; Fritz Paltauf; Albin Hermetter
Uptake of fluorescent plasmalogen analogs by cultured human skin fibroblasts deficient in plasmalogen.
Biochimica et biophysica acta 1990;1029(1):75-84.
1990: Kurt A Jellinger; W Paulus; W Grisold; Eduard Paschke
New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy.
Clinical neuropathology 1990;9(4):163-9.
1990: Wolfgang Sperl; W Gruber; J Quatacker; L Monnens; W Thoenes; Franz-Martin Fink; Eduard Paschke
Nephrosis in two siblings with infantile sialic acid storage disease.
European journal of pediatrics 1990;149(7):477-82.
1990: R Kurz; Thomas Kenner; Friedrich Reiterer; R Schenkeli; R Haidmayer; S Stöckler; Eduard Paschke
Factors involved in the pathogenesis of unexpected near miss events of infants (ALTE).
Acta paediatrica Hungarica 1990;30(3-4):435-47.
1989: M Forstner; K Freytag; Eduard Paschke
A simple, one-step synthesis of N-acetyl-9-O-acetylneuraminic acid by enzymic transesterification mediated by porcine pancreas lipase in pyridine.
Carbohydrate research 1989;193():294-5.
1989: S Stöckler; O S Ipsiroglu; Eduard Paschke
[Congenital metabolic diseases as a cause of acute illnesses in the neonatal period].
Klinische Pädiatrie 1989;201(5):369-72.
1989: Adelbert A Roscher; S Hoefler; Gerald Hoefler; Eduard Paschke; F Paltauf; Ann B Moser; H Moser
Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.
Pediatric research 1989;26(1):67-72.
1988: Gerald Hoefler; F Harnoncourt; Eduard Paschke; W Mirtl; K H Pfeiffer; Gerhard Kostner
Lipoprotein Lp(a). A risk factor for myocardial infarction.
Arteriosclerosis (Dallas, Tex.) 1988;8(4):398-401.
1988: W Gebhart; M Mainitz; Wolfgang Jurecka; G Niebauer; Eduard Paschke; S Stöckler; E Sluga
[Ichthyosiform scaling in alpha-1,4-glucosidase deficiency].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 1988;39(4):228-32.
1988: S Stöckler; M Klopf; P Pokits; W Erwa; R Kurz; Eduard Paschke
A simple concept for the screening of amino- and organic acidurias.
Journal of inherited metabolic disease 1988;11(4):432-3.
1987: J Deutsch; H Becker; R Dubs; I Mutz; Eduard Paschke; P Schober; G Maurer; G F Fueger
[Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency].
Wiener klinische Wochenschrift 1987;99(3):84-91.
1987: Eduard Paschke; Gerald Hoefler; Adelbert A Roscher
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
Journal of inherited metabolic disease 1987;10(1):48-51.
1986: Eduard Paschke; Gerald Hoefler; Adelbert A Roscher
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts.
Pediatric research 1986;20(8):773-7.
1986: Eduard Paschke; G Trinkl; W Erwa; M Pavelka; I Mutz; Adelbert A Roscher
Infantile type of sialic acid storage disease with sialuria.
Clinical genetics 1986;29(5):417-24.
1984: O Schmut; Rudolf Mallinger; Eduard Paschke
Studies on a distinct fraction of bovine vitreous body collagen.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1984;221(6):286-9.
1983: Giovanni V Coppa; P L Giorgi; L Felici; Orazio Gabrielli; E Donti; S Bernasconi; H Kresse; Eduard Paschke; C Mastropaolo
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.
European journal of pediatrics 1983;140(2):130-3.
1982: Eduard Paschke; H Kresse
Morquio disease, type B: activation of GM1-beta-galactosidase by GM1-activator protein.
Biochemical and biophysical research communications 1982;109(2):568-75.
1982: Eduard Paschke; R Niemann; G Strecker; H Kresse
Aggregation properties of beta-galactosidase of human urine and degradation of its natural substrates by a purified preparation of the enzyme.
Biochimica et biophysica acta 1982;704(1):134-43.
1982: R Gatti; C Borrone; P Durand; S De Virgilis; G Sanna; A Cao; K von Figura; H Kresse; Eduard Paschke
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.
European journal of pediatrics 1982;138(2):168-71.
1982: H Kresse; K von Figura; U Klein; Josef Glössl; Eduard Paschke; R Pohlmann
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders.
Methods in enzymology 1982;83():559-72.
1981: W Mlekusch; B Paletta; W Truppe; Eduard Paschke; R Grimus
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 and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 1981;13(11):612-4.
1981: H Kresse; Michael Cantz; K von Figura; Josef Glössl; Eduard Paschke
The mucopolysaccharidoses: biochemistry and clinical symptoms.
Klinische Wochenschrift 1981;59(16):867-76.
1981: T Ludolph; Eduard Paschke; Josef Glössl; H Kresse
Degradation of keratan sulphate by beta-N-acetylhexosaminidases A and B.
The Biochemical journal 1981;193(3):811-8.
1980: H Kresse; Eduard Paschke; K von Figura; W Gilberg; W Fuchs
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
Proceedings of the National Academy of Sciences of the United States of America 1980;77(11):6822-6.
1980: H Groebe; M Krins; H Schmidberger; K von Figura; K Harzer; H Kresse; Eduard Paschke; A Sewell; K Ullrich
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
American journal of human genetics 1980;32(2):258-72.
1979: Eduard Paschke; H Kresse
Multiple forms of 2-deoxy-D-glucoside-2-sulphamate sulphohydrolase from human placenta.
The Biochemical journal 1979;181(3):677-84.
1977: R Schmidt; K Von Figura; Eduard Paschke; H Kresse
Sanfilippo's disease type A: sulfamidase activity in peripheral leukocytes of normal, heterozygous and homozygous individuals.
Clinica chimica acta; international journal of clinical chemistry 1977;80(1):7-15.