메뉴 건너뛰기




Volumn 52, Issue 9, 2006, Pages 1660-1668

Immunochemistry of lysosomal storage disorders

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; BETA GLUCOSIDASE; CERAMIDE TRIHEXOSIDE; CHITOTRIOSIDASE; GANGLIOSIDE GM2; GANGLIOSIDE GM3; HEPARAN SULFATE; IDURONATE 2 SULFATASE; KERATAN SULFATE; LEVO IDURONIDASE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; N ACETYLGALACTOSAMINE 4 SULFATASE; SPHINGOLIPID ACTIVATOR PROTEIN;

EID: 33748288121     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.064915     Document Type: Review
Times cited : (25)

References (80)
  • 3
    • 30144434467 scopus 로고    scopus 로고
    • Complexity in genetic diseases: How patients inform the science by ignoring the dogma
    • McCabe LL, McCabe ER. Complexity in genetic diseases: how patients inform the science by ignoring the dogma. Am J Med Genet A 2006;140:160-1.
    • (2006) Am J Med Genet A , vol.140 , pp. 160-161
    • McCabe, L.L.1    McCabe, E.R.2
  • 5
    • 0027370562 scopus 로고
    • Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype
    • Hopwood JJ, Vellodi A, Scott HS, Morris CP, Litjens T, Clements PR, et al. Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. J Inherit Metab Dis 1993;16:1024-33.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 1024-1033
    • Hopwood, J.J.1    Vellodi, A.2    Scott, H.S.3    Morris, C.P.4    Litjens, T.5    Clements, P.R.6
  • 6
    • 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, Pastures 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    Pastures, G.M.5    Muenzer, J.6
  • 7
    • 1542669902 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis VI (Marcteaux-Lamy syndrome)
    • Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Marcteaux-Lamy syndrome). J Pediatr 2004;144:574-80.
    • (2004) J Pediatr , vol.144 , pp. 574-580
    • Harmatz, P.1    Whitley, C.B.2    Waber, L.3    Pais, R.4    Steiner, R.5    Plecko, B.6
  • 8
    • 0025869216 scopus 로고
    • Replacement therapy for inherited enzyme deficiency - Macrophage-targeted glucocerebroside 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 glucocerebroside 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
  • 9
    • 0036016096 scopus 로고    scopus 로고
    • Agalsidase alfa-a preparation for enzyme replacement therapy in Anderson-Fabry disease
    • Beck M. Agalsidase alfa-a preparation for enzyme replacement therapy in Anderson-Fabry disease. Expert Opin Investig Drugs 2002;11:851-8.
    • (2002) Expert Opin Investig Drugs , vol.11 , pp. 851-858
    • Beck, M.1
  • 10
    • 0036594285 scopus 로고    scopus 로고
    • Agalsidase alfa: Specific treatment for Fabry disease
    • Mehta A. Agalsidase alfa: specific treatment for Fabry disease. Hosp Med 2002;63:347-50.
    • (2002) Hosp Med , vol.63 , pp. 347-350
    • Mehta, A.1
  • 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
    • 7244254360 scopus 로고    scopus 로고
    • Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
    • Elstein D, Hollak C, Aerts JM, van Weely S, Maas M, Cox TM, et al. Sustained therapeutic effects of oral miglustat (Zavesca, N- butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004;27:757-66.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 757-766
    • Elstein, D.1    Hollak, C.2    Aerts, J.M.3    Van Weely, S.4    Maas, M.5    Cox, T.M.6
  • 14
    • 0038206527 scopus 로고    scopus 로고
    • Miglustat. Oxford GlycoSciences/Actelion
    • Lachmann RH, Miglustat. Oxford GlycoSciences/Actelion [Review]. Curr Opin Investig Drugs 2003;4:472-9.
    • (2003) Curr Opin Investig Drugs , vol.4 , pp. 472-479
    • Lachmann, R.H.1
  • 15
    • 0037762566 scopus 로고    scopus 로고
    • Substrate reduction therapy: Clinical evaluation in type 1 Gaucher disease
    • Moyses C. Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. Philos Trans R Soc Lond B Biol Sci 2003;358:955-60.
    • (2003) Philos Trans R Soc Lond B Biol Sci , vol.358 , pp. 955-960
    • Moyses, C.1
  • 16
    • 16844368149 scopus 로고    scopus 로고
    • Substrate reduction therapy for lysosomal storage diseases
    • Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr Suppl 2005;94:69-75.
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 69-75
    • Cox, T.M.1
  • 17
    • 27244456033 scopus 로고    scopus 로고
    • Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses
    • Butters TD, Dwek RA, Platt FM. Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses. Glycobiology 2005;15:43R-52R.
    • (2005) Glycobiology , vol.15
    • Butters, T.D.1    Dwek, R.A.2    Platt, F.M.3
  • 19
    • 0042526080 scopus 로고    scopus 로고
    • Gene therapy progress and prospects: Gene therapy of lysosomal storage disorders
    • Cheng SH, Smith AE. Gene therapy progress and prospects: gene therapy of lysosomal storage disorders. Gene Ther 2003;10:1275-81.
    • (2003) Gene Ther , vol.10 , pp. 1275-1281
    • Cheng, S.H.1    Smith, A.E.2
  • 20
    • 21244490473 scopus 로고    scopus 로고
    • Adeno-associated virus (AAV) vectors in the CNS
    • McCown TJ. Adeno-associated virus (AAV) vectors in the CNS. Curr Gene Ther 2005;5:333-8.
    • (2005) Curr Gene Ther , vol.5 , pp. 333-338
    • McCown, T.J.1
  • 21
    • 23844491693 scopus 로고    scopus 로고
    • AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis
    • Griffey M, Macauley SL, Ogilvie JM, Sands MS. AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. Mol Ther 2005;12:413-21.
    • (2005) Mol Ther , vol.12 , pp. 413-421
    • Griffey, M.1    Macauley, S.L.2    Ogilvie, J.M.3    Sands, M.S.4
  • 22
    • 26444604517 scopus 로고    scopus 로고
    • A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease
    • Martino S, Marconi P, Tancini B, Dolcetta D, De Angelis MG, Montanucci P, et al. A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. Hum Mol Genet 2005;14:2113-23.
    • (2005) Hum Mol Genet , vol.14 , pp. 2113-2123
    • Martino, S.1    Marconi, P.2    Tancini, B.3    Dolcetta, D.4    De Angelis, M.G.5    Montanucci, P.6
  • 23
    • 1842635586 scopus 로고    scopus 로고
    • α-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients
    • Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA. α-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 2004;338:453-62.
    • (2004) J Mol Biol , vol.338 , pp. 453-462
    • Hein, L.K.1    Bawden, M.2    Muller, V.J.3    Sillence, D.4    Hopwood, J.J.5    Brooks, D.A.6
  • 24
    • 3242762183 scopus 로고    scopus 로고
    • N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: A potential chemical chaperone therapy for Gaucher disease
    • Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, et al. N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta 2004;1689:219-28.
    • (2004) Biochim Biophys Acta , vol.1689 , pp. 219-228
    • Lin, H.1    Sugimoto, Y.2    Ohsaki, Y.3    Ninomiya, H.4    Oka, A.5    Taniguchi, M.6
  • 25
    • 0037180511 scopus 로고    scopus 로고
    • Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease
    • Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW. Chemical chaperones increase the cellular activity of N370S β-glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A 2002;99:15428-33.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 15428-15433
    • Sawkar, A.R.1    Cheng, W.C.2    Beutler, E.3    Wong, C.H.4    Balch, W.E.5    Kelly, J.W.6
  • 28
    • 4644273798 scopus 로고    scopus 로고
    • Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
    • Li Y, Scott CR, Chamoles NA, Ghavani 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    Ghavani, A.4    Pinto, B.M.5    Turecek, F.6
  • 29
    • 17744388985 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    • Wang D, Eadala B, Chamoles NA, Turecek F, Scott CR, Gelb MH, et al. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900.
    • (2005) Clin Chem , vol.51 , pp. 898-900
    • Wang, D.1    Eadala, B.2    Chamoles, N.A.3    Turecek, F.4    Scott, C.R.5    Gelb, M.H.6
  • 30
    • 0022199680 scopus 로고
    • Human α-L-iduronidase. I. Purification, monoclonal antibody production, native and subunit molecular mass
    • Clements PR, Brooks DA, Saccone GT, Hopwood JJ. Human α-L-iduronidase. I. Purification, monoclonal antibody production, native and subunit molecular mass. Eur J Biochem 1985;152:21-8.
    • (1985) Eur J Biochem , vol.152 , pp. 21-28
    • Clements, P.R.1    Brooks, D.A.2    Saccone, G.T.3    Hopwood, J.J.4
  • 31
    • 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
  • 32
    • 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;284:789-94.
    • (1992) Biochem J , vol.284 , 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
  • 33
    • 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;289:241-6.
    • (1993) Biochem J , vol.289 , pp. 241-246
    • Bielicki, J.1    Hopwood, J.J.2    Wilson, P.J.3    Anson, D.S.4
  • 34
    • 0031973038 scopus 로고    scopus 로고
    • Recombinant human sulphamidase: Expression, amplification, purification and characterization
    • Bielicki J, Hopwood JJ, Melville EL, Anson DS. Recombinant human sulphamidase: expression, amplification, purification and characterization. Biochem J 1998;329:145-50.
    • (1998) Biochem J , vol.329 , pp. 145-150
    • Bielicki, J.1    Hopwood, J.J.2    Melville, E.L.3    Anson, D.S.4
  • 37
    • 0026580688 scopus 로고
    • Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients
    • Ashton U, Brooks DA, McCourt PA, Muller VJ, Clements PR, Hopwood JJ. Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am J Hum Genet 1992;50:787-94.
    • (1992) Am J Hum Genet , vol.50 , pp. 787-794
    • Ashton, U.1    Brooks, D.A.2    McCourt, P.A.3    Muller, V.J.4    Clements, P.R.5    Hopwood, J.J.6
  • 38
    • 0025779840 scopus 로고    scopus 로고
    • Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients
    • Brooks DA, McCourt PA, Gibson GJ, Ashton LJ, Shutter M, Hopwood JJ. Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. Am J Hum Genet 1999;48:710-9.
    • (1999) Am J Hum Genet , vol.48 , pp. 710-719
    • Brooks, D.A.1    McCourt, P.A.2    Gibson, G.J.3    Ashton, L.J.4    Shutter, M.5    Hopwood, J.J.6
  • 39
    • 0033601221 scopus 로고    scopus 로고
    • Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome
    • Perkins KJ, Byers S, Yogalingam G, Weber B, Hopwood JJ. Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome. J Biol Chem 1999;274:37193-9.
    • (1999) J Biol Chem , vol.274 , pp. 37193-37199
    • Perkins, K.J.1    Byers, S.2    Yogalingam, G.3    Weber, B.4    Hopwood, J.J.5
  • 40
    • 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
  • 41
    • 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
  • 42
    • 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
  • 43
    • 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
  • 44
    • 27444431707 scopus 로고    scopus 로고
    • Immunoquantification of β-glucosidase: Diagnosis and prediction of severity in Gaucher disease
    • Fuller M, Lovejoy M, Hopwood JJ, Meikle PJ. Immunoquantification of β-glucosidase: diagnosis and prediction of severity in Gaucher disease. Clin Chem 2005;51:2200-2.
    • (2005) Clin Chem , vol.51 , pp. 2200-2202
    • Fuller, M.1    Lovejoy, M.2    Hopwood, J.J.3    Meikle, P.J.4
  • 45
    • 0027346136 scopus 로고
    • The immunochemical analysis of enzyme from mucopolysaccharidoses patients
    • Brooks DA. The immunochemical analysis of enzyme from mucopolysaccharidoses patients. J Inherit Metab Dis 1993;16:3-15.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 3-15
    • Brooks, D.A.1
  • 46
    • 0346838302 scopus 로고    scopus 로고
    • Application of monoclonal antibodies to the study of molecules in solution
    • Zola H, ed. Oxford, United Kingdom: BIOS Scientific Publishers
    • Brooks DA. Application of monoclonal antibodies to the study of molecules in solution. In: Zola H, ed. Introduction to biotechniques series. Oxford, United Kingdom: BIOS Scientific Publishers 2000:81-100.
    • (2000) Introduction to Biotechniques Series , pp. 81-100
    • Brooks, D.A.1
  • 47
    • 0027462810 scopus 로고
    • Modifying an enzyme immunoassay of immunoreactive trypsinogen to use time-resolved fluorescence
    • Ryall RG, Gjerde EM, Gerace RL, Ranieri E. Modifying an enzyme immunoassay of immunoreactive trypsinogen to use time-resolved fluorescence. Clin Chem 1993;39:224-8.
    • (1993) Clin Chem , vol.39 , pp. 224-228
    • Ryall, R.G.1    Gjerde, E.M.2    Gerace, R.L.3    Ranieri, E.4
  • 49
    • 12144286060 scopus 로고    scopus 로고
    • Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA
    • Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, et al. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res 2004;55:592-7.
    • (2004) Pediatr Res , vol.55 , pp. 592-597
    • Tomatsu, S.1    Okamura, K.2    Taketani, T.3    Orii, K.O.4    Nishioka, T.5    Gutierrez, M.A.6
  • 50
    • 9744229206 scopus 로고    scopus 로고
    • Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
    • McGlynn R, Dobrenis K, Walkley SU. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 2004;480:415-26.
    • (2004) J Comp Neurol , vol.480 , pp. 415-426
    • McGlynn, R.1    Dobrenis, K.2    Walkley, S.U.3
  • 51
    • 2942672495 scopus 로고    scopus 로고
    • Secondary accumulation of gangliosides in lysosomal storage disorders
    • Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 2004;15:433-44.
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 433-444
    • Walkley, S.U.1
  • 52
    • 0035064872 scopus 로고    scopus 로고
    • Diagnosis of α-L-iduronidase deficiency in dried blood spots on filter paper: The possibility of newborn diagnosis
    • Chamoles NA, Blanco M, Gaggioli D. Diagnosis of α-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem 2001;47:780-1.
    • (2001) Clin Chem , vol.47 , pp. 780-781
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 53
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195-6.
    • (2001) Clin Chim Acta , vol.308 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 55
    • 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
  • 56
    • 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
  • 57
    • 0036184049 scopus 로고    scopus 로고
    • Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
    • Chamoles NA, Blanco M, Gaggioli D, Casentini C. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002;318:133-7.
    • (2002) Clin Chim Acta , vol.318 , pp. 133-137
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4
  • 58
    • 4143095952 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper
    • Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 2004;347:97-102.
    • (2004) Clin Chim Acta , vol.347 , pp. 97-102
    • Chamoles, N.A.1    Niizawa, G.2    Blanco, M.3    Gaggioli, D.4    Casentini, C.5
  • 59
    • 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
  • 61
    • 33645458448 scopus 로고    scopus 로고
    • Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood-spot and plasma samples
    • In Press
    • Dean CJ, Bockmann MR, Hopwood JJ, Brooks DA, Meikle PJ. Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood-spot and plasma samples. Clin Chem 2006; In Press.
    • (2006) Clin Chem
    • Dean, C.J.1    Bockmann, M.R.2    Hopwood, J.J.3    Brooks, D.A.4    Meikle, P.J.5
  • 62
    • 0026623201 scopus 로고
    • Generation of one set of monoclonal antibodies specific for a-pathway ganglio-series gangliosides
    • Kotani M, Ozawa H, Kawashima I, Ando S, Tai T. Generation of one set of monoclonal antibodies specific for a-pathway ganglio-series gangliosides. Biochim Biophys Acta 1992;21:97-103.
    • (1992) Biochim Biophys Acta , vol.21 , pp. 97-103
    • Kotani, M.1    Ozawa, H.2    Kawashima, I.3    Ando, S.4    Tai, T.5
  • 63
    • 0027771592 scopus 로고
    • Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy
    • Itoh K, Kotani M, Tai T, Suzuki H, Utsunomiya T, Inoue H, et al. Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy. Clin Genet 1993;44:302-6.
    • (1993) Clin Genet , vol.44 , pp. 302-306
    • Itoh, K.1    Kotani, M.2    Tai, T.3    Suzuki, H.4    Utsunomiya, T.5    Inoue, H.6
  • 64
  • 65
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
    • Nakao S, Kodama T, Takenaka A, Tanaka Y, Yasumoto A, Yoshida T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003;64:801-7.
    • (2003) Kidney Int , vol.64 , pp. 801-807
    • Nakao, S.1    Kodama, T.2    Takenaka, A.3    Tanaka, Y.4    Yasumoto, A.5    Yoshida, T.6
  • 66
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-11.
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6
  • 68
    • 0030797123 scopus 로고    scopus 로고
    • Diagnosis of lysosomal storage disorders: Evaluation of a 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 a 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
  • 70
    • 4544294311 scopus 로고    scopus 로고
    • Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy
    • Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Paediatrics 2004;114:909-16.
    • (2004) Paediatrics , vol.114 , pp. 909-916
    • Meikle, P.J.1    Ranieri, E.2    Simonsen, H.3    Rozaklis, T.4    Ramsay, S.L.5    Whitfield, P.D.6
  • 71
    • 0242362630 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
    • Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003;49:1797-817.
    • (2003) Clin Chem , vol.49 , pp. 1797-1817
    • Chace, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 72
    • 0025266070 scopus 로고
    • Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase
    • Brooks DA, McCourt PA, Gibson GJ, Hopwood JJ. Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase. J Inherit Metab Dis 1990;13:108-20.
    • (1990) J Inherit Metab Dis , vol.13 , pp. 108-120
    • Brooks, D.A.1    McCourt, P.A.2    Gibson, G.J.3    Hopwood, J.J.4
  • 74
    • 14844325339 scopus 로고    scopus 로고
    • Analysis of normal and mutant iduronate-2-sulphatase conformation
    • Parkinson-Lawrence E, Turner C, Hopwood J, Brooks D. Analysis of normal and mutant iduronate-2-sulphatase conformation. Biochem J 2005;386:395-400.
    • (2005) Biochem J , vol.386 , pp. 395-400
    • Parkinson-Lawrence, E.1    Turner, C.2    Hopwood, J.3    Brooks, D.4
  • 75
    • 2642562168 scopus 로고    scopus 로고
    • Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms
    • Montfort M, Chabas A, Vilageliu L, Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. Hum Mutat 2004;23:567-75.
    • (2004) Hum Mutat , vol.23 , pp. 567-575
    • Montfort, M.1    Chabas, A.2    Vilageliu, L.3    Grinberg, D.4
  • 76
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • Sibilie 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
    • Sibilie, A.1    Eng, C.M.2    Kim, S.J.3    Pastores, G.4    Grabowski, G.A.5
  • 77
    • 4744360567 scopus 로고    scopus 로고
    • Identification of a common mutation in mucopolysaccharidosis IVA: Correlation among genotype, phenotype, and keratan sulfate
    • Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet 2004;49:490-4.
    • (2004) J Hum Genet , vol.49 , pp. 490-494
    • Tomatsu, S.1    Dieter, T.2    Schwartz, I.V.3    Sarmient, P.4    Giugliani, R.5    Barrera, L.A.6
  • 78
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.