PMID: 108196Mar 12, 1979

Basic findings and current developments in sphingolipidoses

Human Genetics
H PILZD Seidel

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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Related Concepts

Fabry Disease
Galactosylgalactosylglucosylceramidase
Gangliosides
Gangliosidoses
Gaucher Disease, Type 3 (Disorder)
Genes, Recessive
Glucosylceramidase
Glucosaminidases
Late-Onset Globoid Cell Leukodystrophy
Arylsulfatase A Deficiency

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