A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies.
D002478:Cells, Cultured; D004796:Clinical Enzyme Tests; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005347:Fibroblasts / Q000201:enzymology*; D005696:Galactosidases / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008832:Microchemistry; D008856:Microscopy, Fluorescence; D013050:Spectrometry, Fluorescence; D000519:alpha-Galactosidase / Q000378:metabolism*
D005696:Galactosidases; D000519:alpha-Galactosidase