-
1
-
-
0000869162
-
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
-
2
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 Update
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003;21:577-81.
-
(2003)
Hum Mutat
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
-
3
-
-
0030754096
-
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
-
4
-
-
12244288380
-
Mucopolysaccharidosis type II-genotype/phenotype aspects
-
Froissart R, Moreira da Silva I, Guffon N, Bozon D, Maire I. Mucopolysaccharidosis type II-genotype/phenotype aspects. Acta Paediatr Suppl 2002;91:82-7.
-
(2002)
Acta Paediatr Suppl
, vol.91
, pp. 82-87
-
-
Froissart, R.1
Moreira Da Silva, I.2
Guffon, N.3
Bozon, D.4
Maire, I.5
-
5
-
-
0346059410
-
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
-
6
-
-
0032998144
-
Long-term follow-up following bone marrow transplantation for Hunter disease
-
Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999;22:638-48.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 638-648
-
-
Vellodi, A.1
Young, E.2
Cooper, A.3
Lidchi, V.4
Winchester, B.5
Wraith, J.E.6
-
7
-
-
4444328072
-
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
-
8
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75:65-74.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
-
9
-
-
2342666229
-
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
-
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
-
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
-
12
-
-
11444253752
-
Prediction of neuropathology in mucopolysaccharidosis I patients
-
Fuller M, Brooks DA, Evangelista M, Hein LK, Hopwood JJ, Meikle PJ. Prediction of neuropathology in mucopolysaccharidosis I patients. Mol Genet Metab 2005;84:18-24.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 18-24
-
-
Fuller, M.1
Brooks, D.A.2
Evangelista, M.3
Hein, L.K.4
Hopwood, J.J.5
Meikle, P.J.6
-
13
-
-
13444282110
-
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
-
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
-
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
-
16
-
-
0036856655
-
Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay
-
Keulemans JL, Sinigerska I, Garritsen VH, Huijmans JG, Voznyi YV, van Diggelen OP, et al. Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenat Diagn 2002;22:1016-21.
-
(2002)
Prenat Diagn
, vol.22
, pp. 1016-1021
-
-
Keulemans, J.L.1
Sinigerska, I.2
Garritsen, V.H.3
Huijmans, J.G.4
Voznyi, Y.V.5
Van Diggelen, O.P.6
-
17
-
-
0025047301
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
31
-
-
18844396774
-
Adoption of array technologies into the clinical laboratory
-
Hadd AG, Brown JT, Andruss BF, Ye F, WalkerPeach CR. Adoption of array technologies into the clinical laboratory. Expert Rev Mol Diagn 2005;5:409-20.
-
(2005)
Expert Rev Mol Diagn
, vol.5
, pp. 409-420
-
-
Hadd, A.G.1
Brown, J.T.2
Andruss, B.F.3
Ye, F.4
Walkerpeach, C.R.5
-
32
-
-
0031563137
-
Lysosomal biogenesis in lysosomal storage disorders
-
Karageorgos LE, Isaac EL, Brooks DA, Ravenscroft EM, Davey R, Hopwood JJ, et al. Lysosomal biogenesis in lysosomal storage disorders. Exp Cell Res 1997;234:85-97.
-
(1997)
Exp Cell Res
, vol.234
, pp. 85-97
-
-
Karageorgos, L.E.1
Isaac, E.L.2
Brooks, D.A.3
Ravenscroft, E.M.4
Davey, R.5
Hopwood, J.J.6
-
33
-
-
0031690936
-
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
-
34
-
-
0033977050
-
Saposins A; B, C, and D in plasma of patients with lysosomal storage disorders
-
Chang MH, Bindloss CA, Grabowski GA, Qi X, Winchester B, Hopwood JJ, et al. Saposins A; B, C, and D in plasma of patients with lysosomal storage disorders. Clin Chem 2000;46:167-74.
-
(2000)
Clin Chem
, vol.46
, pp. 167-174
-
-
Chang, M.H.1
Bindloss, C.A.2
Grabowski, G.A.3
Qi, X.4
Winchester, B.5
Hopwood, J.J.6
-
35
-
-
33645458357
-
Newborn screening for lysosomal storage disorders: Evaluation of protein profiling
-
Meikle PJ, Dean CJ, Grasby D, Bockmann MR, Whittle AM, Lang DL, et al. Newborn screening for lysosomal storage disorders: . evaluation of protein profiling [Abstract]. J Inherit Metab Dis 2005;28(Suppl 1):14.
-
(2005)
J Inherit Metab Dis
, vol.28
, Issue.SUPPL. 1
, pp. 14
-
-
Meikle, P.J.1
Dean, C.J.2
Grasby, D.3
Bockmann, M.R.4
Whittle, A.M.5
Lang, D.L.6
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