메뉴 건너뛰기




Volumn 52, Issue 4, 2006, Pages 643-649

Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME ANTIBODY; HYMECROMONE SULFATE; IDURONATE 2 SULFATASE; IMMOBILIZED ANTIBODY; LANTHANIDE;

EID: 33645458448     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.061838     Document Type: Article
Times cited : (26)

References (35)
  • 1
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic bases of inherited diseases, 8th ed. New York: McGraw-Hill, 2001:3421-52.
    • (2001) The Metabolic Bases of Inherited Diseases, 8th Ed. , pp. 3421-3452
    • Neufeld, E.F.1    Muenzer, J.2
  • 3
    • 0030754096 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients
    • Villani GR, Balzano N, Grosso M, Salvatore F, Izzo P, Di Natale P. Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. Hum Mutat 1997;10:71-5.
    • (1997) Hum Mutat , vol.10 , pp. 71-75
    • Villani, G.R.1    Balzano, N.2    Grosso, M.3    Salvatore, F.4    Izzo, P.5    Di Natale, P.6
  • 5
    • 0346059410 scopus 로고    scopus 로고
    • Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients
    • Parkinson EJ, Muller V, Hopwood JJ, Brooks DA. Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. Mol Genet Metab 2004;81:58-64.
    • (2004) Mol Genet Metab , vol.81 , pp. 58-64
    • Parkinson, E.J.1    Muller, V.2    Hopwood, J.J.3    Brooks, D.A.4
  • 7
    • 4444328072 scopus 로고    scopus 로고
    • Gaucher disease: Alendronate disodium improves bone mineral density in adults receiving enzyme therapy
    • Wenstrup RJ, Bailey L, Grabowski GA, Moskovitz J, Oestreich AE, Wu W, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 2004;104:1253-7.
    • (2004) Blood , vol.104 , pp. 1253-1257
    • Wenstrup, R.J.1    Bailey, L.2    Grabowski, G.A.3    Moskovitz, J.4    Oestreich, A.E.5    Wu, W.6
  • 9
    • 2342666229 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)
    • Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase). J Pediatr 2004;144:581-8.
    • (2004) J Pediatr , vol.144 , pp. 581-588
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3    Kolodny, E.H.4    Pastores, G.M.5    Muenzer, J.6
  • 10
    • 27744493202 scopus 로고    scopus 로고
    • Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
    • Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005;115: e681-9.
    • (2005) Pediatrics , vol.115
    • Harmatz, P.1    Ketteridge, D.2    Giugliani, R.3    Guffon, N.4    Teles, E.L.5    Miranda, M.C.6
  • 11
    • 0036984005 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): A preliminary report
    • Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl 2002;91:98-9.
    • (2002) Acta Paediatr Suppl , vol.91 , pp. 98-99
    • Muenzer, J.1    Lamsa, J.C.2    Garcia, A.3    Dacosta, J.4    Garcia, J.5    Treco, D.A.6
  • 13
    • 13444282110 scopus 로고    scopus 로고
    • Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots
    • Hein LK, Meikle PJ, Dean CJ, Bockmann MR, Auclair D, Hopwood JJ, et al. Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots. Clin Chim Acta 2005;353:67-74.
    • (2005) Clin Chim Acta , vol.353 , pp. 67-74
    • Hein, L.K.1    Meikle, P.J.2    Dean, C.J.3    Bockmann, M.R.4    Auclair, D.5    Hopwood, J.J.6
  • 14
    • 7044264831 scopus 로고    scopus 로고
    • Immunoquantification of α-galactosidase: Evaluation for the diagnosis of Fabry disease
    • Fuller M, Lovejoy M, Brooks DA, Harkin ML, Hopwood JJ, Meikle PJ. Immunoquantification of α-galactosidase: evaluation for the diagnosis of Fabry disease. Clin Chem 2004;50:1979-85.
    • (2004) Clin Chem , vol.50 , pp. 1979-1985
    • Fuller, M.1    Lovejoy, M.2    Brooks, D.A.3    Harkin, M.L.4    Hopwood, J.J.5    Meikle, P.J.6
  • 15
    • 0034911699 scopus 로고    scopus 로고
    • Determination of acid α-glucosidase activity in blood spots as a diagnostic test for Pompe disease
    • Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid α-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001;47:1378-83.
    • (2001) Clin Chem , vol.47 , pp. 1378-1383
    • Umapathysivam, K.1    Hopwood, J.J.2    Meikle, P.J.3
  • 17
    • 0025047301 scopus 로고
    • Human liver iduronate-2-sulphatase. Purification, characterization, and catalytic properties
    • Bielicki J, Freeman C, Clements PR, Hopwood JJ. Human liver iduronate-2-sulphatase. Purification, characterization, and catalytic properties. Biochem J 1990;271:75-86.
    • (1990) Biochem J , vol.271 , pp. 75-86
    • Bielicki, J.1    Freeman, C.2    Clements, P.R.3    Hopwood, J.J.4
  • 18
    • 0035194407 scopus 로고    scopus 로고
    • A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
    • Voznyi YV, Keulemans JL, van Diggelen OP. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 2001;24:675-80.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 675-680
    • Voznyi, Y.V.1    Keulemans, J.L.2    Van Diggelen, O.P.3
  • 19
    • 0035202118 scopus 로고    scopus 로고
    • Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001;47:2098-102.
    • (2001) Clin Chem , vol.47 , pp. 2098-2102
    • Chamoles, N.A.1    Blanco, M.B.2    Gaggioli, D.3    Casentini, C.4
  • 20
    • 0027402648 scopus 로고
    • Recombinant human iduronate-2-sulphatase: Correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme
    • Bielicki J, Hopwood JJ, Wilson PJ, Anson DS. Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme. Biochem J 1993;289(Pt 1):241-6.
    • (1993) Biochem J , vol.289 , Issue.PART 1 , pp. 241-246
    • Bielicki, J.1    Hopwood, J.J.2    Wilson, P.J.3    Anson, D.S.4
  • 21
    • 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, Yan 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    Yan, M.4    Williams, R.E.5    Jaunzems, A.E.6
  • 22
    • 0026697053 scopus 로고
    • Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase
    • Anson DS, Taylor JA, Bielicki J, Harper GS, Peters C, Gibson GJ, et al. Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase. Biochem J 1992;284(Pt 3):789-94.
    • (1992) Biochem J , vol.284 , Issue.PART 3 , pp. 789-794
    • Anson, D.S.1    Taylor, J.A.2    Bielicki, J.3    Harper, G.S.4    Peters, C.5    Gibson, G.J.6
  • 23
    • 0018447401 scopus 로고
    • α-L-iduronidase, β-D-glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: Preparation and characterization of radioactive substrates from heparin
    • Hopwood JJ. α-L-Iduronidase, β-D-glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: preparation and characterization of radioactive substrates from heparin. Carbohydr Res 1979;69:203-16.
    • (1979) Carbohydr Res , vol.69 , pp. 203-216
    • Hopwood, J.J.1
  • 24
    • 4544345160 scopus 로고    scopus 로고
    • Diagnosis of lysosomal storage disorders: Current techniques and future directions
    • Meikle PJ, Fietz MJ, Hopwood JJ. Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev Mol Diagn 2004;4:677-91.
    • (2004) Expert Rev Mol Diagn , vol.4 , pp. 677-691
    • Meikle, P.J.1    Fietz, M.J.2    Hopwood, J.J.3
  • 26
    • 0035969541 scopus 로고    scopus 로고
    • The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
    • Bonuccelli G, Di Natale P, Corsolini F, Villani G, Regis S, Filocamo M. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. Biochim Biophys Acta 2001;1537:233-8.
    • (2001) Biochim Biophys Acta , vol.1537 , pp. 233-238
    • Bonuccelli, G.1    Di Natale, P.2    Corsolini, F.3    Villani, G.4    Regis, S.5    Filocamo, M.6
  • 27
    • 0001578843 scopus 로고    scopus 로고
    • Multiple sulfatase deficiency and the nature of the sulfatase family
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Hopwood JJ, Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic bases of inherited diseases, 8th ed. New York: McGraw-Hill, 2001:3725-32.
    • (2001) The Metabolic Bases of Inherited Diseases, 8th Ed. , pp. 3725-3732
    • Hopwood, J.J.1    Ballabio, A.2
  • 28
    • 8844275956 scopus 로고    scopus 로고
    • Sulfatases: Structure, mechanism, biological activity, inhibition, and synthetic utility
    • Hanson SR, Best MD, Wong CH. Sulfatases: structure, mechanism, biological activity, inhibition, and synthetic utility. Angew Chem Int Ed Engl 2004;43:5736-63.
    • (2004) Angew Chem Int Ed Engl , vol.43 , pp. 5736-5763
    • Hanson, S.R.1    Best, M.D.2    Wong, C.H.3
  • 29
    • 0034429848 scopus 로고    scopus 로고
    • Solid supports in enzyme-linked immunosorbent assay and other solid-phase immunoassays
    • Butler JE. Solid supports in enzyme-linked immunosorbent assay and other solid-phase immunoassays. Methods 2000;22:4-23.
    • (2000) Methods , vol.22 , pp. 4-23
    • Butler, J.E.1
  • 33
    • 0031690936 scopus 로고    scopus 로고
    • Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders
    • Hua CT, Hopwood JJ, Carlsson SR, Harris RJ, Meikle PJ. Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders. Clin Chem 1998;44:2094-102.
    • (1998) Clin Chem , vol.44 , pp. 2094-2102
    • Hua, C.T.1    Hopwood, J.J.2    Carlsson, S.R.3    Harris, R.J.4    Meikle, P.J.5
  • 35


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.