PubRank

E Paschke

Author PubWeight™ 31.39‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol 2000 2.01
2 Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. Pediatr Res 1989 1.67
3 Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Proc Natl Acad Sci U S A 1980 1.33
4 Pharmacologic differentiation between endothelium-dependent relaxations sensitive and resistant to nitro-L-arginine in coronary arteries. J Cardiovasc Pharmacol 1994 1.21
5 Lipoprotein Lp(a). A risk factor for myocardial infarction. Arteriosclerosis 1988 1.14
6 Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis 2005 1.10
7 Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study. Eur J Neurol 2010 1.01
8 Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics 2009 0.96
9 Morquio disease in a patient diagnosed as having Perthes disease for 38 years. J Inherit Metab Dis 1995 0.94
10 Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis 2005 0.94
11 Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J Med Genet 2004 0.92
12 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol 1982 0.91
13 Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. Eur J Pediatr 1983 0.90
14 Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage. J Clin Invest 1991 0.90
15 Infantile type of sialic acid storage disease with sialuria. Clin Genet 1986 0.88
16 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet 2010 0.86
17 Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. Am J Hum Genet 1980 0.86
18 Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. Eur J Pediatr 1982 0.83
19 Multiple forms of 2-deoxy-D-glucoside-2-sulphamate sulphohydrolase from human placenta. Biochem J 1979 0.83
20 Sanfilippo's disease type A: sulfamidase activity in peripheral leukocytes of normal, heterozygous and homozygous individuals. Clin Chim Acta 1977 0.82
21 Degradation of keratan sulphate by beta-N-acetylhexosaminidases A and B. Biochem J 1981 0.80
22 Recurrent acroparaesthesia during febrile infections. Lancet 2004 0.80
23 Factors involved in the pathogenesis of unexpected near miss events of infants (ALTE). Acta Paediatr Hung 1990 0.80
24 A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. J Inherit Metab Dis 1994 0.80
25 Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. Eur J Paediatr Neurol 2010 0.79
26 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 0.78
27 Morquio disease, type B: activation of GM1-beta-galactosidase by GM1-activator protein. Biochem Biophys Res Commun 1982 0.78
28 A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease. J Inherit Metab Dis 2002 0.78
29 Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts. Pediatr Res 1986 0.77
30 Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil. J Inherit Metab Dis 1995 0.77
31 Nephrosis in two siblings with infantile sialic acid storage disease. Eur J Pediatr 1990 0.77
32 Plasma concentrations of glucose, corticosterone, glucagon and insulin and liver content of metabolic substrates and enzymes during starvation and additional hypoxia in the rat. Horm Metab Res 1981 0.77
33 Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria. Prilozi 2011 0.76
34 The mucopolysaccharidoses: biochemistry and clinical symptoms. Klin Wochenschr 1981 0.76
35 Fucosidosis: genetic and biochemical analysis of eight cases. J Med Genet 1997 0.75
36 Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease. J Inherit Metab Dis 2006 0.75
37 New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy. Clin Neuropathol 1990 0.75
38 Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus. Pediatr Radiol 1993 0.75
39 Another unusual case of fucosidosis. J Inherit Metab Dis 1995 0.75
40 [Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency]. Wien Klin Wochenschr 1987 0.75
41 [Ichthyosiform scaling in alpha-1,4-glucosidase deficiency]. Hautarzt 1988 0.75
42 [Congenital metabolic diseases as a cause of acute illnesses in the neonatal period]. Klin Padiatr 1989 0.75
43 Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin. Clin Chim Acta 1993 0.75
44 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 0.75
45 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 0.75
46 Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy. Am J Dermatopathol 1995 0.75
47 Studies on a distinct fraction of bovine vitreous body collagen. Graefes Arch Clin Exp Ophthalmol 1984 0.75
48 Uptake of fluorescent plasmalogen analogs by cultured human skin fibroblasts deficient in plasmalogen. Biochim Biophys Acta 1990 0.75
49 [New aspects in diagnosis and therapy of hereditary diseases of the nervous and skeletal systems]. Wien Klin Wochenschr 1997 0.75
50 A simple, one-step synthesis of N-acetyl-9-O-acetylneuraminic acid by enzymic transesterification mediated by porcine pancreas lipase in pyridine. Carbohydr Res 1989 0.75
51 Aggregation properties of beta-galactosidase of human urine and degradation of its natural substrates by a purified preparation of the enzyme. Biochim Biophys Acta 1982 0.75
52 A simple concept for the screening of amino- and organic acidurias. J Inherit Metab Dis 1988 0.75