-
1
-
-
0000436145
-
From cytases to lysosomes
-
C. De Duve, From cytases to lysosomes, Fed. Proc. 23 (1964) 1045-1054.
-
(1964)
Fed. Proc.
, vol.23
, pp. 1045-1054
-
-
De Duve, C.1
-
2
-
-
0000869162
-
The mucopolysaccharidoses
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), McGraw-Hill, New York
-
E.F. Neufeld, J. Meunzer, The mucopolysaccharidoses, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 2001, pp. 3421-3452.
-
(2001)
The Metabolic Basis of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Meunzer, J.2
-
3
-
-
0027218354
-
Enzyme therapy in Gaucher disease type I: Dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months
-
G.M. Pastores, A.R. Sibille, G.A. Grabowski, 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
-
4
-
-
0020526790
-
Gene deletions in patients with hemophilia B and antifactor IX antibodies
-
F. Giannelli, K.H. Choo, D.J. Rees, Y. Boyd, C.R. Rizza, G.G. Brownlee, Gene deletions in patients with hemophilia B and antifactor IX antibodies, Nature 303 (1983) 181-182.
-
(1983)
Nature
, vol.303
, pp. 181-182
-
-
Giannelli, F.1
Choo, K.H.2
Rees, D.J.3
Boyd, Y.4
Rizza, C.R.5
Brownlee, G.G.6
-
5
-
-
0030908645
-
Enzyme therapy in Gaucher disease type I: Effect of neutralizing antibodies to acid β-glucosidase
-
E. Ponce, J. Moskovitz, G. Grabowski, 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
-
6
-
-
0032737067
-
Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
-
D.A. Brooks, 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
-
7
-
-
6544277992
-
Anaphylactic response to factor IX replacement therapy in haemophilia B patients: Complete gene deletions confer the greatest risk
-
E.C. Thorland, J.B. Drost, J.M. Lusher, I. Warrier, I. Shapiro, M.A. Koerper, D. Dimichele, J. Westman, N.S. Key, S.S. Somner, Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the greatest risk, Haemophilia 5 (1999) 101-105.
-
(1999)
Haemophilia
, vol.5
, pp. 101-105
-
-
Thorland, E.C.1
Drost, J.B.2
Lusher, J.M.3
Warrier, I.4
Shapiro, I.5
Koerper, M.A.6
Dimichele, D.7
Westman, J.8
Key, N.S.9
Somner, S.S.10
-
8
-
-
15844392149
-
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
-
A.C. Crawley, D.A. Brooks, V.J. Muller, B.A. Petersen, E.L. Isaac, J. Bielicki, B.M. King, C.D. Boulter, A.J. Moore, N.L. Fazzalari, D.S. Anson, S. Byers, J.J. Hopwood, Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome, J. Clin. Inves. 97 (1996) 1864-1873.
-
(1996)
J. Clin. Inves.
, vol.97
, pp. 1864-1873
-
-
Crawley, A.C.1
Brooks, D.A.2
Muller, V.J.3
Petersen, B.A.4
Isaac, E.L.5
Bielicki, J.6
King, B.M.7
Boulter, C.D.8
Moore, A.J.9
Fazzalari, N.L.10
Anson, D.S.11
Byers, S.12
Hopwood, J.J.13
-
9
-
-
0030791383
-
Enzyme replacement therapy in Mucopolysaccharidosis VI: Evidence for immune responses and altered efficacy of treatment in animal models
-
D.A. Brooks, B.M. King, A.C. Crawley, S. Byers, J.J. Hopwood, 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
-
10
-
-
0031927424
-
Immune response to enzyme replacement therapy: Clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model
-
D.A. Brooks, J.J. Hopwood, B.M. King, 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
-
11
-
-
0032775996
-
Immune response to enzyme replacement therapy: 4-Sulfatase epitope reactivity of plasma antibodies from MPS VI cats
-
C.T. Turner, J.J. Hopwood, C.S. Bond, D.A. Brooks, 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
-
12
-
-
0034112722
-
Enzyme replacement therapy in mucopolysaccharidosis I: Altered distribution and targeting of α-L-iduronidase in immunized rats
-
C.T. Turner, J.J. Hopwood, D.A. Brooks, Enzyme replacement therapy in mucopolysaccharidosis I: Altered distribution and targeting of α-L-iduronidase in immunized 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
-
13
-
-
0027017317
-
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
-
H.S. Scott, T. Litjens, J.J. Hopwood, C.P. Morris, A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype, Hum. Mutat. 1 (1992) 103-108.
-
(1992)
Hum. Mutat.
, vol.1
, pp. 103-108
-
-
Scott, H.S.1
Litjens, T.2
Hopwood, J.J.3
Morris, C.P.4
-
14
-
-
0027018480
-
α-L-Iduronidase mutations (Q70X and P533R) associate with severe Hurler phenotypes
-
H.S. Scott, T. Litjens, P.V. Nelson, D.A. Brooks, J.J. Hopwood, C.P. Morris, α-L-Iduronidase mutations (Q70X and P533R) associate with severe Hurler phenotypes, Hum. Mutat. 1 (1992) 333-339.
-
(1992)
Hum. Mutat.
, vol.1
, pp. 333-339
-
-
Scott, H.S.1
Litjens, T.2
Nelson, P.V.3
Brooks, D.A.4
Hopwood, J.J.5
Morris, C.P.6
-
15
-
-
0035182013
-
Mutational analysis of 85 mucopolysaccharidosis type I families: Frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
-
C.E. Beesley, C.A. Meaney, G. Greenland, V. Adams, A. Vellodi, E.P. Young, B.G. Winchester, Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations, Hum. Genet. 109 (2001) 503-511.
-
(2001)
Hum. Genet.
, vol.109
, pp. 503-511
-
-
Beesley, C.E.1
Meaney, C.A.2
Greenland, G.3
Adams, V.4
Vellodi, A.5
Young, E.P.6
Winchester, B.G.7
-
16
-
-
0026580688
-
Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients
-
L.J. Ashton, D.A. Brooks, P.A. McCourt, V.J. Muller, P.R. Clements, J.J. Hopwood, 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
-
17
-
-
0027346136
-
Review: The immunochemical analysis of enzyme from mucopolysaccharidoses patients
-
D.A. Brooks, Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients, J. Inherit. Metab. Dis. 16 (1993) 3-15.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 3-15
-
-
Brooks, D.A.1
-
18
-
-
0029166485
-
Conserved catalytic machinery and the prediction of a common fold for several families of glycosyl hydrolases
-
B. Henrissat, I. Callebaut, S. Fabrega, P. Lehn, J.P. Mornon, G. Davies, 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
-
19
-
-
0030733350
-
Structural and sequence-based classification of glycoside hydrolases
-
B. Henrissat, G. Davies, Structural and sequence-based classification of glycoside hydrolases, Curr. Opin. Struct. Biol. 7 (1997) 637-644.
-
(1997)
Curr. Opin. Struct. Biol.
, vol.7
, pp. 637-644
-
-
Henrissat, B.1
Davies, G.2
-
20
-
-
0031568850
-
Structure of a human lysosomal sulfatase
-
C.S. Bond, P.R. Clements, S.J. Ashby, C.A. Collyer, S.J. Harrop, J.J. Hopwood, J.M. Guss, Structure of a human lysosomal sulfatase, Structure 5 (1997) 277-289.
-
(1997)
Structure
, vol.5
, pp. 277-289
-
-
Bond, C.S.1
Clements, P.R.2
Ashby, S.J.3
Collyer, C.A.4
Harrop, S.J.5
Hopwood, J.J.6
Guss, J.M.7
-
21
-
-
0032539976
-
Crystal structure of human arylsulfatase A - The aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis
-
G. Lukatela, N. Krauss, K. Theis, T. Selmer, V. Gieselmann, K. von Figura, W. Saenger, Crystal structure of human arylsulfatase A - the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis, Biochem. 37 (1998) 3654-3664.
-
(1998)
Biochem.
, vol.37
, pp. 3654-3664
-
-
Lukatela, G.1
Krauss, N.2
Theis, K.3
Selmer, T.4
Gieselmann, V.5
Von Figura, K.6
Saenger, W.7
-
22
-
-
0028239145
-
Enzyme replacement therapy for murine mucopolysaccharidoses type VII
-
M.S. Sands, C. Vogler, J.W. Kyle, J.H. Grubb, B. Levy, N. Galvin, W.S. Sly, E.H. Birkenmeier, Enzyme replacement therapy for murine mucopolysaccharidoses 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
Grubb, J.H.4
Levy, B.5
Galvin, N.6
Sly, W.S.7
Birkenmeier, E.H.8
-
23
-
-
0030221033
-
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
-
E.D. Kakkis, M.F. McEntee, A. Schmidtchen, E.F. Neufeld, D.A. Ward, R.E. Gompf, S. Kania, C. Bedolla, S.L. Chien, R.M. Shull, 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
Neufeld, E.F.4
Ward, D.A.5
Gompf, R.E.6
Kania, S.7
Bedolla, C.8
Chien, S.L.9
Shull, R.M.10
-
24
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebrosidase for Gaucher's disease
-
N.W. Barton, R.O. Brady, J.M. Dambrosia, A.M. Di-Bisceglie, S.H. Doppelt, S.C. Hill, H.J. Mankin, G.J. Murray, R.I. Parker, C.E. Argo., R.P. Grewal, K. Yu, 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
Di-Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
Mankin, H.J.7
Murray, G.J.8
Parker, R.I.9
Argo, C.E.10
Grewal, R.P.11
Yu, K.12
-
25
-
-
0031453771
-
Enzyme replacement therapy for Gaucher's disease
-
E. Beutler, 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
-
26
-
-
0034729963
-
Recombinant human α-glucosidase from rabbit milk in Pompe patients
-
H. Van den Hout, A.J. Reuser, A.G. Vulto, M.C. Loonen, A. Cromme-Dijkhuis, A.T. Van der Ploeg, Recombinant human α-glucosidase from rabbit milk in Pompe patients, Lancet 356 (2000) 397-398.
-
(2000)
Lancet
, vol.356
, pp. 397-398
-
-
Van den Hout, H.1
Reuser, A.J.2
Vulto, A.G.3
Loonen, M.C.4
Cromme-Dijkhuis, A.5
Van der Ploeg, A.T.6
-
27
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
E.D. Kakkis, J. Muenzer, G.E. Tiller, L. Waber, J. Belmont, M. Passage, B. Izykowski, J. Phillips, R. Doroshow, I. Walot, R. Hoft, E.F. Neufeld, 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
Waber, L.4
Belmont, J.5
Passage, M.6
Izykowski, B.7
Phillips, J.8
Doroshow, R.9
Walot, I.10
Hoft, R.11
Neufeld, E.F.12
-
28
-
-
0033559287
-
Immunosurveillence of alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeated administration
-
M. Rosenberg, W. Kingma, M.A. Fitzpatrick, S.M. Richards, Immunosurveillence 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
-
29
-
-
0026670602
-
An improved method for the purification of IgG monoclonal antibodies from culture supernatants
-
D.A. Brooks, T.M. Bradford, J.J. Hopwood, An improved method for the purification of IgG monoclonal antibodies from culture supernatants, J. Immunol. Meth. 155 (1992) 129-132.
-
(1992)
J. Immunol. Meth.
, vol.155
, pp. 129-132
-
-
Brooks, D.A.1
Bradford, T.M.2
Hopwood, J.J.3
-
30
-
-
0024557985
-
Immunopurification and characterisation of human α-L-iduronidase with the use of monoclonal antibodies
-
P.R. Clements, D.A. Brooks, P.A.G. McCourt, J.J. Hopwood, Immunopurification and characterisation of human α-L-iduronidase with the use of monoclonal antibodies, Biochem. J. 259 (1989) 199-208.
-
(1989)
Biochem. J.
, vol.259
, pp. 199-208
-
-
Clements, P.R.1
Brooks, D.A.2
McCourt, P.A.G.3
Hopwood, J.J.4
-
31
-
-
0000951677
-
Use of peptide synthesis to probe viral antigens for epitopes to a resolution of a single amino acid
-
H.M. Geysen, R.H. Meloen, S.J. Barteling, Use of peptide synthesis to probe viral antigens for epitopes to a resolution of a single amino acid, 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
-
32
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
C.M. Eng, N. Guffon, W.R. Wilcox, D.P. Germain, P. Lee, S. Waldek, L. Caplan, G.E. Linthorst, R.J. Desnick, Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease, N. Engl. J. Med. 345 (2001) 9-16.
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
33
-
-
0033533669
-
Virus treatment questioned after gene therapy death
-
S. Lehrman, Virus treatment questioned after gene therapy death, Nature 401 (1999) 517-518.
-
(1999)
Nature
, vol.401
, pp. 517-518
-
-
Lehrman, S.1
-
34
-
-
0025938673
-
Human α-L-iduronidase: cDNA isolation and expression
-
H.S. Scott, D.S. Anson, A.M. Osborne, P.V. Nelson, P.R. Clements, C.P. Morris, J.J. Hopwood, Human α-L-iduronidase: cDNA isolation and expression, Proc. Natl. Acad. Sci. USA 88 (1991) 9695-9699.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 9695-9699
-
-
Scott, H.S.1
Anson, D.S.2
Osborne, A.M.3
Nelson, P.V.4
Clements, P.R.5
Morris, C.P.6
Hopwood, J.J.7
-
35
-
-
0034774921
-
Glycosidase active site mutations in human α-L-iduronidase
-
D.A. Brooks, S. Fabrega, L.K. Hein, E.J. Parkinson, P. Durand, G. Yogalingam, U. Matte, R. Giugliani, A. Dasvarma, J. Eslahpazire, B. Henrissat, J.-P. Mornon, J.J. Hopwood, P. Lehn, 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
Parkinson, E.J.4
Durand, P.5
Yogalingam, G.6
Matte, U.7
Giugliani, R.8
Dasvarma, A.9
Eslahpazire, J.10
Henrissat, B.11
Mornon, J.-P.12
Hopwood, J.J.13
Lehn, P.14
-
36
-
-
0030954670
-
Carbohydrate structures of recombinant human α-L-iduronidase secreted by Chinese hamster ovary cells
-
K.-W. Zhao, K.F. Faull, E.D. Kakkis, E.F. Neufeld, Carbohydrate structures of recombinant human α-L-iduronidase secreted by Chinese hamster ovary cells, J. Biol. Chem. 272 (1997) 22758-22765.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 22758-22765
-
-
Zhao, K.-W.1
Faull, K.F.2
Kakkis, E.D.3
Neufeld, E.F.4
-
37
-
-
0025014816
-
Co-localisation of molecules involved in antigen processing and presentation in an early endocytic compartment
-
L.E. Guagliardi, B. Koppelman, J.S. Blum, M.S. Marks, P. Creswell, F.M. Brodsky, Co-localisation of molecules involved in antigen processing and presentation in an early endocytic compartment, Nature 343 (1990) 133-139.
-
(1990)
Nature
, vol.343
, pp. 133-139
-
-
Guagliardi, L.E.1
Koppelman, B.2
Blum, J.S.3
Marks, M.S.4
Creswell, P.5
Brodsky, F.M.6
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