PubMed · 108196
Basic findings and current developments in sphingolipidoses.
Abstract
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.
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H Pilz, R Heipertz, D Seidel. 1979-03-12. Basic findings and current developments in sphingolipidoses.. https://doi.org/10.1007/bf00273194
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