-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
-
Neufeld E.F., Muenzer J. The mucopolysaccharidoses. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic basis of inherited disease. 2001;3421-3452 McGraw-Hill, New York.
-
(2001)
The metabolic basis of inherited disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
4
-
-
0000436145
-
From cytases to lysosomes
-
De Duve C. From cytases to lysosomes. Fed Proc. 23:1964;1045-1054.
-
(1964)
Fed Proc
, vol.23
, pp. 1045-1054
-
-
De Duve, C.1
-
5
-
-
0014012410
-
The sphingolipidoses
-
Brady R.O. The sphingolipidoses. N Engl J Med. 275:1966;312-318.
-
(1966)
N Engl J Med
, vol.275
, pp. 312-318
-
-
Brady, R.O.1
-
6
-
-
0020002137
-
Enzyme therapy: Problems and solutions
-
Holcenberg J.S. Enzyme therapy: problems and solutions. Annu Rev Biochem. 51:1982;795-812.
-
(1982)
Annu Rev Biochem
, vol.51
, pp. 795-812
-
-
Holcenberg, J.S.1
-
7
-
-
0028239145
-
Enzyme replacement therapy for murine mucopolysaccharidosis type VII
-
Sands M.S., Vogler C., Kyle J.W., et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest. 93:1994;2324-2331.
-
(1994)
J Clin Invest
, vol.93
, pp. 2324-2331
-
-
Sands, M.S.1
Vogler, C.2
Kyle, J.W.3
-
8
-
-
0031453771
-
Enzyme replacement therapy for Gaucher's disease
-
Beutler E. Enzyme replacement therapy for Gaucher's disease. Bailliere's Clin Haematol. 10:1997;751-763.
-
(1997)
Bailliere's Clin Haematol
, vol.10
, pp. 751-763
-
-
Beutler, E.1
-
9
-
-
0031868229
-
Enzyme therapy for Gaucher disease: The first 5 years
-
Grabowski G.A., Leslie N., Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev. 12:1998;115-133.
-
(1998)
Blood Rev
, vol.12
, pp. 115-133
-
-
Grabowski, G.A.1
Leslie, N.2
Wenstrup, R.3
-
10
-
-
15844392149
-
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
-
Crawley A.C., Brooks D.A., Muller V.J., et al. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest. 97:1996;1864-1873.
-
(1996)
J Clin Invest
, vol.97
, pp. 1864-1873
-
-
Crawley, A.C.1
Brooks, D.A.2
Muller, V.J.3
-
11
-
-
0031029536
-
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI
-
Crawley A.C., Neidzielski K.H., Isaac E.L., Davey R.C., Byers S., Hopwood J.J. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest. 99:1997;651-662.
-
(1997)
J Clin Invest
, vol.99
, pp. 651-662
-
-
Crawley, A.C.1
Neidzielski, K.H.2
Isaac, E.L.3
Davey, R.C.4
Byers, S.5
Hopwood, J.J.6
-
12
-
-
0000561621
-
Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behaviour and auditory function
-
O'Connor L.H., Erway L.C., Vogler C.A., et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behaviour and auditory function. J Clin Invest. 101:1998;1394-1400.
-
(1998)
J Clin Invest
, vol.101
, pp. 1394-1400
-
-
O'Connor, L.H.1
Erway, L.C.2
Vogler, C.A.3
-
13
-
-
0030221033
-
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
-
Kakkis E.D., McEntee M.F., Schmidtchen A., et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med. 58:1996;156-167.
-
(1996)
Biochem Mol Med
, vol.58
, pp. 156-167
-
-
Kakkis, E.D.1
McEntee, M.F.2
Schmidtchen, A.3
-
14
-
-
0030899669
-
Murine mucopolysaccharidosis type I: Targeted disruption of the murine α-L-iduronidase gene
-
Clarke L.A., Russell C.S., Pownall S., et al. Murine mucopolysaccharidosis type I: targeted disruption of the murine α-L-iduronidase gene. Hum Mol Genet. 6:1997;503-511.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 503-511
-
-
Clarke, L.A.1
Russell, C.S.2
Pownall, S.3
-
15
-
-
0037517739
-
Direct enzyme replacement with recombinant human iduronidase in a murine model of mucopolysaccharidosis I
-
(abstr 124)
-
Clarke L.A., Russell C.S., Matlock T., et al. Direct enzyme replacement with recombinant human iduronidase in a murine model of mucopolysaccharidosis I. Am J Hum Genet. 65:1999;A25. (abstr 124).
-
(1999)
Am J Hum Genet
, vol.65
, pp. 25
-
-
Clarke, L.A.1
Russell, C.S.2
Matlock, T.3
-
16
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton N.W., Brady R.O., Dambrosia J.M., et al. Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 324:1991;1464-1470.
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
-
17
-
-
0029775116
-
Current issues in enzyme replacement therapy for Gaucher disease
-
Grabowski G.A. Current issues in enzyme replacement therapy for Gaucher disease. Drugs. 52:1996;159-167.
-
(1996)
Drugs
, vol.52
, pp. 159-167
-
-
Grabowski, G.A.1
-
18
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis E.D., Muenzer J., Tiller G.E., et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 344:2001;182-188.
-
(2001)
N Engl J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
-
19
-
-
0027218354
-
Enzyme therapy in Gaucher disease type I: Dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months
-
Pastores G.M., Sibille A.R., Grabowski G.A. Enzyme therapy in Gaucher disease type I: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood. 82:1993;408-416.
-
(1993)
Blood
, vol.82
, pp. 408-416
-
-
Pastores, G.M.1
Sibille, A.R.2
Grabowski, G.A.3
-
20
-
-
0031290143
-
Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease
-
Brady R.O., Murray G.J., Oliver K.L., et al. Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. Pediatrics. 100:1997;11114.
-
(1997)
Pediatrics
, vol.100
, pp. 11114
-
-
Brady, R.O.1
Murray, G.J.2
Oliver, K.L.3
-
21
-
-
0030908645
-
Enzyme therapy in Gaucher disease type I: Effect of neutralizing antibodies to acid β-glucosidase
-
Ponce E., Moskovitz J., Grabowski G. Enzyme therapy in Gaucher disease type I: effect of neutralizing antibodies to acid β-glucosidase. Blood. 90:1997;43-48.
-
(1997)
Blood
, vol.90
, pp. 43-48
-
-
Ponce, E.1
Moskovitz, J.2
Grabowski, G.3
-
22
-
-
0030791383
-
Enzyme replacement therapy in mucopolysaccharidosis VI: Evidence for immune responses and altered efficacy of treatment in animal models
-
Brooks D.A., King B.M., Crawley A.C., Byers S., Hopwood J.J. Enzyme replacement therapy in mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models. Biochim Biophys Acta. 1361:1997;203-216.
-
(1997)
Biochim Biophys Acta
, vol.1361
, pp. 203-216
-
-
Brooks, D.A.1
King, B.M.2
Crawley, A.C.3
Byers, S.4
Hopwood, J.J.5
-
23
-
-
0033559287
-
Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeated administration
-
Rosenberg M., Kingma W., Fitzpatrick M.A., Richards S.M. Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeated administration. Blood. 93:1999;2081-2088.
-
(1999)
Blood
, vol.93
, pp. 2081-2088
-
-
Rosenberg, M.1
Kingma, W.2
Fitzpatrick, M.A.3
Richards, S.M.4
-
24
-
-
0032737067
-
Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
-
Brooks D.A. Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models. Mol Genet Metab. 68:1999;268-275.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 268-275
-
-
Brooks, D.A.1
-
25
-
-
0031927424
-
Immune response to enzyme replacement therapy: Clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model
-
Brooks D.A., Hopwood J.J., King B.M. Immune response to enzyme replacement therapy: clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model. Biochim Biophys Acta. 1407:1998;163-172.
-
(1998)
Biochim Biophys Acta
, vol.1407
, pp. 163-172
-
-
Brooks, D.A.1
Hopwood, J.J.2
King, B.M.3
-
26
-
-
0032775996
-
Immune response to enzyme replacement therapy: 4-sulfatase epitope reactivity of plasma antibodies from MPS VI cats
-
Turner C.T., Hopwood J.J., Bond C.S., Brooks D.A. Immune response to enzyme replacement therapy: 4-sulfatase epitope reactivity of plasma antibodies from MPS VI cats. Mol Genet Metab. 67:1999;194-205.
-
(1999)
Mol Genet Metab
, vol.67
, pp. 194-205
-
-
Turner, C.T.1
Hopwood, J.J.2
Bond, C.S.3
Brooks, D.A.4
-
27
-
-
0034112722
-
Enzyme replacement therapy in mucopolysaccharidosis I: Altered distribution and targeting of α-L-iduronidase in immunised rats
-
Turner C.T., Hopwood J.J., Brooks D.A. Enzyme replacement therapy in mucopolysaccharidosis I: altered distribution and targeting of α-L-iduronidase in immunised rats. Mol Genet Metab. 69:2000;277-285.
-
(2000)
Mol Genet Metab
, vol.69
, pp. 277-285
-
-
Turner, C.T.1
Hopwood, J.J.2
Brooks, D.A.3
-
28
-
-
0026580688
-
Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients
-
Ashton L.J., Brooks D.A., McCourt P.A., Muller V.J., Clements P.R., Hopwood J.J. Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am J Hum Genet. 50:1992;787-794.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 787-794
-
-
Ashton, L.J.1
Brooks, D.A.2
McCourt, P.A.3
Muller, V.J.4
Clements, P.R.5
Hopwood, J.J.6
-
29
-
-
0000951677
-
Use of peptide synthesis to probe viral antigens for epitopes to a resolution of a single aminoacid
-
Geysen H.M., Meloen R.H., Barteling S.J. Use of peptide synthesis to probe viral antigens for epitopes to a resolution of a single aminoacid. Proc Natl Acad Sci USA. 81:1984;3998-4002.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 3998-4002
-
-
Geysen, H.M.1
Meloen, R.H.2
Barteling, S.J.3
-
30
-
-
0034639932
-
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis
-
Durand P., Fabrega S., Henrissat B., Mornon J.P., Lehn P. Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis. Hum Mol Genet. 9:2000;967-977.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 967-977
-
-
Durand, P.1
Fabrega, S.2
Henrissat, B.3
Mornon, J.P.4
Lehn, P.5
-
31
-
-
0034774921
-
Glycosidase active site mutations in human α-L-iduronidase
-
Brooks D.A., Fabrega S., Hein L.K., et al. Glycosidase active site mutations in human α-L-iduronidase. Glycobiology. 11:2001;741-750.
-
(2001)
Glycobiology
, vol.11
, pp. 741-750
-
-
Brooks, D.A.1
Fabrega, S.2
Hein, L.K.3
-
32
-
-
0029166485
-
Conserved catalytic machinery and the prediction of a common fold for several families of glycosyl hydrolases
-
Henrissat B., Callebaut I., Fabrega S., Lehn P., Mornon J.P., Davies G. Conserved catalytic machinery and the prediction of a common fold for several families of glycosyl hydrolases. Proc Natl Acad Sci USA. 92:1995;7090-7094.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 7090-7094
-
-
Henrissat, B.1
Callebaut, I.2
Fabrega, S.3
Lehn, P.4
Mornon, J.P.5
Davies, G.6
|