Authors: Paschke, E Milos, I Kreitner-Erlacher, H Hoefler, G Hoeltzenbein, M Kleijer, W Levade, T Michelakakis, H Radeva, B

Citation: E. Paschke et al., 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, 109(2), 2001, pp. 159-166

Authors: Kroepfl, T Milos, I Paul, K Plecko, B Paschke, E

Citation: T. Kroepfl et al., The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years, CLIN GENET, 60(5), 2001, pp. 393-394

Authors: Plecko, B Stockler-Ipsiroglu, S Paschke, E Erwa, W Struys, EA Jakobs, C

Citation: B. Plecko et al., Pipecolic acid elevation in plasma and cerebrospinal fluid of two patientswith pyridoxine-dependent epilepsy, ANN NEUROL, 48(1), 2000, pp. 121-125

Authors: Schmid, JA Mach, L Paschke, E Glossl, J

Citation: Ja. Schmid et al., 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, 274(27), 1999, pp. 19063-19071