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NTIS 바로가기Clinical genetics, v.38 no.3, 1990년, pp.218 - 227
Miranda, M. Clara Sa , Aerts, Johannes M. F. G. , Pinto, Rui , Fontes, Augusta , de Lacerda, Lucia Wanzeller , van Weely, Sonja , Barranger, John , Tager, Joseph M.
Glucocerebrosidase activity in extracts of leukocytes, Epstein‐Barr virus transformed lymphocytes and fibroblasts from Portuguese Type 1 Gaucher disease patients was studied. The residual glucocerebrosidase activity in all extracts from patients was less than 25% if measured in the presence o...
AERTS, Johannes M. F. G., DONKER-KOOPMAN, Wilma E., VLIET, Martin K., JONSSON, Lisbeth M. V., GINNS, Edward I., MURRAY, Gary J., BARRANGER, John A., TAGER, Joseph M., SCHRAM, Andre W.. The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen. European journal of biochemistry, vol.150, no.3, 565-574.
Aerts, Johannes M.F.G., Donker-Koopman, Wilma E., Murray, Gary J., Barranger, John A., Tager, Joseph M., Schram, AndréW.. A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies. Analytical biochemistry, vol.154, no.2, 655-663.
AERTS, Johannes M. F. G., DONKER-KOOPMAN, Wilma E., LAAR, Coos, BRUL, Stanley, MURRAY, Gary J., WENGER, David A., BARRANGER, John A., TAGER, Joseph M., SCHRAM, Andre W.. Relationship between the two immunologically distinguishable forms of glucocerebrosidase in tissue extracts. European journal of biochemistry, vol.163, no.3, 583-589.
The Metabolic Basis of Inherited Disease Barranger J. A. 1677 1989
Beutler, E., Kuhl, W.. DETECTION OF THE DEFECT OF GAUCHER'S DISEASE AND ITS CARRIER STATE IN PERIPHERAL-BLOOD LEUCOCYTES. The Lancet, vol.295, no.7647, 612-613.
Chambers, J.P., Aquino, L., Glew, R.H., Lee, R.E., McCafferty, L.R.. Determination of serum acid phosphatase in gaucher's disease using 4-methylumbelliferyl phosphate. Clinica chimica acta, vol.80, no.1, 67-77.
Daniels, L.B., Glew, R.H., Diven, W.F., Lee, R.E., Radin, N.S.. An improved fluorometric leukocyte β-glucosidase assay for Gaucher's disease. Clinica chimica acta, vol.115, no.3, 369-375.
Genetic Metabolic Diseases: Early Diagnosis and Prenatal Analysis Galjaard H. 790 1980
JONSSON, Lisbeth M. V., MURRAY, Gary J., SORRELL, Susan H., STRIJLAND, Anneke, AERTS, Johannes F. G. M., GINNS, Edward I., BARRANGER, John A., TAGER, Joseph M., SCHRAM, Andre W.. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. European journal of biochemistry, vol.164, no.1, 171-179.
KLEINSCHMIDT, Traute, CHRISTOMANOU, Helen, BRAUNITZER, Gerhard. Complete Amino-Acid Sequence and Carbohydrate Content of the Naturally Occurring Glucosylceramide Activator Protein (A1Activator) Absent from a New Human Gaucher Disease Variant. Biological chemistry Hoppe-Seyler, vol.368, no.12, 1571-1578.
Gaucher Disease, a Century of Delineation and Research Kolodny E. H. 33 1982
Lowry, OliverH., Rosebrough, NiraJ., Farr, A. Lewis, Randall, RoseJ.. PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT. The Journal of biological chemistry, vol.193, no.1, 265-275.
Magalhaes, J., SaMiranda, M.C., Pinto, R., Lemos, M., Poenaru, L.. Sodium taurocholate effect on β-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes. Clinica chimica acta, vol.141, no.2, 111-118.
Enzyme Magalhaes J. 95 32 1984 10.1159/000469457 Age dependency of serum acid phosphatase in controls and Gaucher patients
Morimoto, S, Martin, B M, Yamamoto, Y, Kretz, K A, O'Brien, J S, Kishimoto, Y. Saposin A: second cerebrosidase activator protein.. Proceedings of the National Academy of Sciences of the United States of America, vol.86, no.9, 3389-3393.
Neitzel, Heidemarie. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Human genetics, vol.73, no.4, 320-326.
Peters, Stephen P., Coffee, Carole J., Glew, Robert H., Lee, Robert E., Wenger, David A., Li, Su-Chen, Li, Yu-Teh. Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease. Archives of biochemistry and biophysics, vol.183, no.1, 290-297.
Am. J. Hum. Genet. Raghavan S. S. 158 32 1980 Leukocyte β‐glucosidase in homozygotes and heterozygotes for Gaucher disease
Sa Miranda, M.C., Aerts, J.M.F.G., Pinto, R.A.A., Magalhaes, J.A., Barranger, J.A., Tager, J.M., Schram, A.W.. Heterogeneity in human acid β-glucosidase revealed by cellulose-acetate electrophoresis. Biochimica et biophysica acta, General subjects, vol.965, no.2, 163-168.
Am. J. Hum. Genet. Theophilus B. 212 45 1989 Gaucher disease: molecular heterogeneity and phenotype‐genotype correlations
Tsuji, S, Martin, B M, Barranger, J A, Stubblefield, B K, LaMarca, M E, Ginns, E I. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.. Proceedings of the National Academy of Sciences of the United States of America, vol.85, no.7, 2349-2352.
Lipid Storage Disorders. Biological and Medical Aspects. Life Sciences Weely S. 51 1989
Willemsen, R., van Dongen, J. M., Aerts, J. M. F. G., Schram, A. W., Tager, J. M., Goudsmit, R., Reuser, A. J. J.. An Immunoelectron Microscopic Study of Glucocerebrosidase in Type 1 Gaucher's Disease Spleen. Ultrastructural pathology, vol.12, no.5, 471-478.
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