Basic findings and current developments in sphingolipidoses |
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Authors: | H. Pilz R. Heipertz D. Seidel |
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Affiliation: | (1) Department of Neurology, University of Hamburg, Martinistraße 52, D-2000 Hamburg, Federal Republic of Germany |
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Abstract: | Summary Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.Based on a report given at the Fifteenth Meeting of the German Society of Anthropology and Human Genetics in Hamburg, 1977Professor Pilz died tragically on March 27, 1978This study was supported by the Deutsche Forschungsgemeinschaft (Sonderforschungsbereich 33 Nervensystem und biologische Information) |
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