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• W2074617097 startingPage "2448" @default.
• W2074617097 abstract "Biochemical investigations were performed on autopsy tissues obtained from an 11-year-old girl who died with the juvenile, subacute neuropathic form of Gaucher disease. In addition to the expected deficiency of glucocerebrosidase activity, extracts of both liver and kidney from this individual displayed a profound (greater than or equal to 90%) deficiency of soluble beta-glucosidase, beta-xylosidase, and beta-galactosidase activities. Fibroblasts obtained from this individual also contained markedly reduced levels of beta-xylosidase activity but normal levels of beta-D-fucosidase and beta-galactosidase activity. Because the soluble beta-glucosidase, beta-xylosidase, and a portion of the beta-galactosidase activities from control human liver all cochromatographed on a gel filtration column of Sephadex G-200, it is suggested that these activities all reside in a single enzyme, analogous to the situation described in a number of nonhuman, mammalian tissues. This demonstration of multiple glycosidase deficiencies in addition to the deficiency of glucocerebrosidase in a case of subacute neuropathic Gaucher disease suggests that other biochemical aberrations, in addition to a deficiency of glucocerebrosidase, might contribute to pathology in some cases of Gaucher disease." @default.
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• W2074617097 date "1978-05-01" @default.
• W2074617097 modified "2023-09-26" @default.
• W2074617097 title "Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease." @default.
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• W2074617097 doi "https://doi.org/10.1073/pnas.75.5.2448" @default.
• W2074617097 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/392571" @default.
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