Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.
D001706:Biopsy; D002021:Buffers; D002478:Cells, Cultured; D002554:Cerebrosides / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000201:enzymology; D005696:Galactosidases / Q000032:analysis; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005808:Genes, Recessive; D005959:Glucosidases / Q000032:analysis*; D006579:Heterozygote; D006596:Hexosaminidases / Q000032:analysis; D006720:Homozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D010375:Pedigree; D012867:Skin / Q000201:enzymology; D013501:Surface-Active Agents / Q000494:pharmacology
D002021:Buffers; D002554:Cerebrosides; D013501:Surface-Active Agents; D005696:Galactosidases; D005959:Glucosidases; D006596:Hexosaminidases