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Review
. 1979 Mar 12;47(2):113-34.
doi: 10.1007/BF00273194.

Basic findings and current developments in sphingolipidoses

H Pilz, R Heipertz, D Seidel
Review

Basic findings and current developments in sphingolipidoses

H Pilz et al. Hum Genet. .

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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