Properties of /3-Glucosidase in Cultured Skin Fibroblasts from Controls and Patients with Gaucher Disease

hepatosplenQ megaly Gaucher cells of biopsies T.) Fibroblasts accelerated ending in liver and myelofibrosis in the year life. A biopsy

[1]  B. Emanuel.  Compound lateral asymmetry in human chromosome 6:BrdU-dye studies of 6q12-->6q14. , 1978, American journal of human genetics.

[2]  K. Hirschhorn,et al.  Cell-specific differences in membrane beta-glucosidase from normal and Gaucher cells. , 1977, Biochimica et biophysica acta.

[3]  S. Peters,et al.  Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen. , 1977, The Journal of biological chemistry.

[4]  K. Hirschhorn,et al.  Arylsulfatase B Deficiency in Maroteaux-Lamy Syndrome: Cellular Studies and Carrier Identification , 1975, Pediatric Research.

[5]  M. Ho.  Specificity of low molecular weight glycoprotein effector of lipid glycosidase , 1975, FEBS letters.

[6]  N. Radin,et al.  Synthetic inhibitors of glucocerebroside beta-glucosidase. , 1975, Archives of biochemistry and biophysics.

[7]  R. Zaizov,et al.  Clinical and biochemical aspects of chronic Gaucher's disease. , 1974, Israel journal of medical sciences.

[8]  M. Ho.  Identity of ‘acid’ β-glucosidase and glucocerebrosidase in human spleen , 1973 .

[9]  R. Brady,et al.  Isolation and characterization of glucocerebrosidase from human placental tissue. , 1973, The Journal of biological chemistry.

[10]  R. Zaizov,et al.  Chronic Gaucher's disease: heat-resistance of leukocyte glucocerebrosidase in relation to some clinical parameters. , 1973, Biomedicine / [publiee pour l'A.A.I.C.I.G.].

[11]  E. Beutler,et al.  The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. , 1970, The Journal of laboratory and clinical medicine.

[12]  R. Brady.  Genetics and the sphingolipidoses. , 1969, The Medical clinics of North America.

[13]  A. D. Patrick.  A Deficiency of Glucocerebrosidase in Gaucher's Disease , 1965 .

[14]  K. Fried,et al.  Chronic Gaucher's disease; clinical observations on 34 patients. , 1965, Israel journal of medical sciences.

[15]  R. Brady,et al.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE. , 1965, Biochemical and biophysical research communications.

[16]  J. Groen.  GAUCHER'S DISEASE. HEREDITARY TRANSMISSION AND RACIAL DISTRIBUTION. , 1964, Archives of internal medicine.

[17]  C. Herndon,et al.  Gaucher's disease: cases in 5 related Negro sibships. , 1950, American journal of human genetics.

[18]  R. Brady,et al.  Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. , 1972, American journal of human genetics.