[Methods for determining the activity of lysosomal hydrolases used in diagnosis of hereditary lysosomal diseases].
The paper describes biochemical methods for determining the activity of a number of lysosomal hydrolases, deficiency of which underlies hereditary lysosomal storage diseases. The methods permit the precise diagnosis of the diseases in a patient and the prenatal diagnosis of a disease in a fetus in at-risk families.
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D004796:Clinical Enzyme Tests / Q000379:methods; D006801:Humans; D006867:Hydrolases / Q000032:analysis*; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D008247:Lysosomes / Q000201:enzymology*
D006867:Hydrolases