title: Isoelectric focusing of acid hydrolases in human liver and serum. Findings in sera from one patient with I-cell disease phenotype.
abstract: Isoelectric focusing was performed with six acid hydrolases in serum and liver tissue. Neuraminidase-treated serum and liver tissue were also examined. In general, acid hydrolases in sera seemed to be more sialylated than those in liver tissue. Serum from one patient with I-cell disease with increased activity of some acid hydrolases was found to have a normal isoelectric focusing pattern. These findings are discussed with respect to the uptake mechanism of acid hydrolases in serum.
mesh_terms: D005260:Female; D006801:Humans; D006867:Hydrolases / Q000097:blood / Q000378:metabolism*; D007223:Infant; D007525:Isoelectric Focusing; D008099:Liver / Q000201:enzymology*; D009081:Mucolipidoses / Q000201:enzymology* / Q000235:genetics; D009439:Neuraminidase / Q000097:blood; D010641:Phenotype
chemical_list: D006867:Hydrolases; D009439:Neuraminidase