메뉴 건너뛰기




Volumn 51, Issue 11, 2005, Pages 2200-2202

Immunoquantification of β-glucosidase: Diagnosis and prediction of severity in Gaucher disease

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; GLYCOSPHINGOLIPID; POLYCLONAL ANTIBODY;

EID: 27444431707     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.053538     Document Type: Article
Times cited : (8)

References (17)
  • 2
    • 0013927537 scopus 로고
    • Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
    • Brady RO, Kanfer JN, Bradley RM, Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 1966;45:1112-5.
    • (1966) J Clin Invest , vol.45 , pp. 1112-1115
    • Brady, R.O.1    Kanfer, J.N.2    Bradley, R.M.3    Shapiro, D.4
  • 5
    • 0025897376 scopus 로고
    • Saposin proteins: Structure, function, and role in human lysosomal storage disorders
    • O'Brien JS, Kishimoto Y. Saposin proteins: structure, function, and role in human lysosomal storage disorders. FASEB J 1991;5:301-8.
    • (1991) FASEB J , vol.5 , pp. 301-308
    • O'Brien, J.S.1    Kishimoto, Y.2
  • 6
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 1993;52:1094-101.
    • (1993) Am J Hum Genet , vol.52 , pp. 1094-1101
    • Sibille, A.1    Eng, C.M.2    Kim, S.J.3    Pastores, G.4    Grabowski, G.A.5
  • 7
    • 0024455533 scopus 로고
    • Gaucher disease: Molecular heterogeneity and phenotype-genotype correlations
    • Theophilus B, Latham T, Grabowski GA, Smith FI. Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet 1989;45:212-25.
    • (1989) Am J Hum Genet , vol.45 , pp. 212-225
    • Theophilus, B.1    Latham, T.2    Grabowski, G.A.3    Smith, F.I.4
  • 8
    • 0037159549 scopus 로고    scopus 로고
    • Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
    • Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002;113:112-9.
    • (2002) Am J Med , vol.113 , pp. 112-119
    • Weinreb, N.J.1    Charrow, J.2    Andersson, H.C.3    Kaplan, P.4    Kolodny, E.H.5    Mistry, P.6
  • 9
    • 0025869216 scopus 로고
    • Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease
    • Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991;324:1464-70.
    • (1991) N Engl J Med , vol.324 , pp. 1464-1470
    • Barton, N.W.1    Brady, R.O.2    Dambrosia, J.M.3    Di Bisceglie, A.M.4    Doppelt, S.H.5    Hill, S.C.6
  • 11
    • 0002782986 scopus 로고
    • Techniques for the production and characterisation of monoclonal antibodies
    • Hurrell JGR, ed. Boca Raton, FL: CRC Press
    • Zola H, Brooks DA. Techniques for the production and characterisation of monoclonal antibodies. In: Hurrell JGR, ed. Monoclonal hybridoma antibodies: techniques and applications. Boca Raton, FL: CRC Press, 1982:1-58.
    • (1982) Monoclonal Hybridoma Antibodies: Techniques and Applications , pp. 1-58
    • Zola, H.1    Brooks, D.A.2
  • 12
    • 0033821427 scopus 로고    scopus 로고
    • Determination of acid α-glucosidase protein: Evaluation as a screening marker for Pompe disease and other lysosomal storage disorders
    • Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, et al. Determination of acid α-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 2000;46:1318-25.
    • (2000) Clin Chem , vol.46 , pp. 1318-1325
    • Umapathysivam, K.1    Whittle, A.M.2    Ranieri, E.3    Bindloss, C.4    Ravenscroft, E.M.5    Van Diggelen, O.P.6
  • 13
    • 0030797123 scopus 로고    scopus 로고
    • Diagnosis of lysosomal storage disorders: Evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker
    • Meikle PJ, Brooks DA, Ravenscroft EM, Van M, Williams RE, Jaunzems AE, et al. Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker. Clin Chem 1997;43:1325-35.
    • (1997) Clin Chem , vol.43 , pp. 1325-1335
    • Meikle, P.J.1    Brooks, D.A.2    Ravenscroft, E.M.3    Van, M.4    Williams, R.E.5    Jaunzems, A.E.6
  • 14
    • 0020325395 scopus 로고
    • Enzymatic diagnosis of the mucopolysaccharidoses: Experience of 96 cases diagnosed in a five-year period
    • Hopwood JJ, Muller V, Harrison JR, Carey WF, Elliott H, Robertson EF, et al. Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period. Med J Aust 1982;1:257-60.
    • (1982) Med J Aust , vol.1 , pp. 257-260
    • Hopwood, J.J.1    Muller, V.2    Harrison, J.R.3    Carey, W.F.4    Elliott, H.5    Robertson, E.F.6
  • 16
    • 4644273798 scopus 로고    scopus 로고
    • Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
    • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-96.
    • (2004) Clin Chem , vol.50 , pp. 1785-1796
    • Li, Y.1    Scott, C.R.2    Chamoles, N.A.3    Ghavami, A.4    Pinto, B.M.5    Turecek, F.6
  • 17
    • 0036155174 scopus 로고    scopus 로고
    • Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
    • Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002;317:191-7.
    • (2002) Clin Chim Acta , vol.317 , pp. 191-197
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.