PubRank

Eduard Paschke

Author PubWeight™ 22.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology 2014 2.38
2 Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004 1.53
3 Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis 2012 1.44
4 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 2007 1.26
5 Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 2013 1.25
6 Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol 2005 1.20
7 Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res 2004 1.16
8 Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord 2005 0.93
9 Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. Transpl Int 2008 0.90
10 Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom 2005 0.90
11 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat 2009 0.87
12 DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. Mol Genet Metab 2010 0.87
13 1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors. Bioorg Med Chem 2008 0.85
14 Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur J Pediatr 2006 0.84
15 Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters. J Psychiatry Neurosci 2005 0.84
16 Anderson-Fabry disease in Austria. Wien Klin Wochenschr 2003 0.82
17 Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors. Beilstein J Org Chem 2010 0.81
18 Infantile sialic acid storage disease and protein-losing gastroenteropathy. Pediatr Neurol 2003 0.78
19 Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease. J Inherit Metab Dis 2011 0.78
20 A fluorescent probe for GM1 gangliosidosis related β-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol. Bioorg Med Chem Lett 2011 0.77
21 Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones. Chembiochem 2010 0.77
22 Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. Pediatr Hematol Oncol 2014 0.77
23 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 0.76
24 Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report. Haematologica 2002 0.75
25 Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs. Psychiatr Genet 2007 0.75