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  • Title: Basic findings and current developments in sphingolipidoses.
    Author: Pilz H, Heipertz R, Seidel D.
    Journal: Hum Genet; 1979 Mar 12; 47(2):113-34. PubMed ID: 108196.
    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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