-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), McGraw-Hill, New York
-
Neufeld, E.F. and Muenzer, J. (2001) The mucopolysaccharidoses. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, pp. 3421-3452.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
2342589511
-
The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations
-
Muenzer, J. (2004) The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations. J. Pediatr., 144, S27-S34.
-
(2004)
J. Pediatr.
, vol.144
-
-
Muenzer, J.1
-
3
-
-
0037509873
-
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
-
Cosma, M.P., Pepe, S., Annunziata, I., Newbold, R.F., Grompe, M., Parenti, G. and Ballabio, A. (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell, 113, 445-456.
-
(2003)
Cell
, vol.113
, pp. 445-456
-
-
Cosma, M.P.1
Pepe, S.2
Annunziata, I.3
Newbold, R.F.4
Grompe, M.5
Parenti, G.6
Ballabio, A.7
-
4
-
-
0037847425
-
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme
-
Dierks, T., Schmidt, B., Borissenko, L.V., Peng, J., Preusser, A., Mariappan, M. and von Figura, K. (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell, 113, 435-444.
-
(2003)
Cell
, vol.113
, pp. 435-444
-
-
Dierks, T.1
Schmidt, B.2
Borissenko, L.V.3
Peng, J.4
Preusser, A.5
Mariappan, M.6
von Figura, K.7
-
5
-
-
0027142502
-
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
-
Hopwood, J.J., Bunge, S., Morris, C.P., Wilson, P.J., Steglich, C., Beck, M., Schwinger, E. and Gal, A. (1993) Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene. Hum. Mutat., 2, 435-442.
-
(1993)
Hum. Mutat.
, vol.2
, pp. 435-442
-
-
Hopwood, J.J.1
Bunge, S.2
Morris, C.P.3
Wilson, P.J.4
Steglich, C.5
Beck, M.6
Schwinger, E.7
Gal, A.8
-
6
-
-
0142153023
-
Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder
-
Brooks, D.A., Kakavanos, R. and Hopwood, J.J. (2003) Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder. Trends Mol. Med., 9, 450-453.
-
(2003)
Trends Mol. Med.
, vol.9
, pp. 450-453
-
-
Brooks, D.A.1
Kakavanos, R.2
Hopwood, J.J.3
-
7
-
-
8844253982
-
Enzyme-replacement therapy for metabolic storage disorders
-
Brady, R.O. and Schiffmann, R. (2004) Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol., 3, 752-756.
-
(2004)
Lancet Neurol.
, vol.3
, pp. 752-756
-
-
Brady, R.O.1
Schiffmann, R.2
-
8
-
-
0029837349
-
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation
-
Li, P., Thompson, J.N., Hug, G., Huffman, P. and Chuck, G. (1996) Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. Am. J. Med. Genet., 64, 531-535.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 531-535
-
-
Li, P.1
Thompson, J.N.2
Hug, G.3
Huffman, P.4
Chuck, G.5
-
9
-
-
0029125545
-
Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): Two-year follow-up of the first Italian patient and review of the literature
-
Coppa, G.V., Gabrielli, O., Zampini, L., Pierani, P., Giorgi, P.L., Jezequel, A.M., Orlandi, F., Miniero, R., Busca, A., De Luca, T. et al. (1995) Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): Two-year follow-up of the first Italian patient and review of the literature. Pediatr. Med. Chir., 17, 227-235.
-
(1995)
Pediatr. Med. Chir.
, vol.17
, pp. 227-235
-
-
Coppa, G.V.1
Gabrielli, O.2
Zampini, L.3
Pierani, P.4
Giorgi, P.L.5
Jezequel, A.M.6
Orlandi, F.7
Miniero, R.8
Busca, A.9
De Luca, T.10
-
10
-
-
0034183048
-
Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome)
-
Peters, C. and Krivit, W. (2000) Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome). Bone Marrow Transplant., 25, 1097-1099.
-
(2000)
Bone Marrow Transplant.
, vol.25
, pp. 1097-1099
-
-
Peters, C.1
Krivit, W.2
-
11
-
-
0032998144
-
Long-term follow-up following bone marrow transplantation for Hunter disease
-
Vellodi, A., Young, E., Cooper, A., Lidchi, V., Winchester, B. and Wraith, J.E. (1999) Long-term follow-up following bone marrow transplantation for Hunter disease. J. Inherit. Metab. Dis., 22, 638-648.
-
(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
-
12
-
-
0346995457
-
The status of hematopoietic stem cell transplantation in lysosomal storage disease
-
Malatack, J.J., Consolini, D.M. and Bayever, E. (2003) The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatr. Neurol., 29, 391-403.
-
(2003)
Pediatr. Neurol.
, vol.29
, pp. 391-403
-
-
Malatack, J.J.1
Consolini, D.M.2
Bayever, E.3
-
13
-
-
0036984005
-
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): A preliminary report
-
Muenzer, J., Lamsa, J.C., Garcia, A., Dacosta, J., Garcia, J. and Treco, D.A. (2002) Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): A preliminary report. Acta Paediatr. Suppl., 91, 98-99.
-
(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
-
14
-
-
0042526080
-
Gene therapy progress and prospects: Gene therapy of lysosomal storage disorders
-
Cheng, S.H. and Smith, A.E. (2003) Gene therapy progress and prospects: gene therapy of lysosomal storage disorders. Gene Ther., 10, 1275-1281.
-
(2003)
Gene Ther.
, vol.10
, pp. 1275-1281
-
-
Cheng, S.H.1
Smith, A.E.2
-
15
-
-
0037015049
-
Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy
-
Gao, G.P., Alvira, M.R., Wang, L., Calcedo, R., Johnston, J. and Wilson, J.M. (2002) Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc. Natl Acad. Sci. USA, 99, 11854-11859.
-
(2002)
Proc. Natl Acad. Sci. USA
, vol.99
, pp. 11854-11859
-
-
Gao, G.P.1
Alvira, M.R.2
Wang, L.3
Calcedo, R.4
Johnston, J.5
Wilson, J.M.6
-
16
-
-
17044394814
-
Sustained correction of disease in naive and AAV2-pretreated hemophilia B dogs: AAV2/8-mediated, liver-directed gene therapy
-
Wang, L., Calcedo, R., Nichols, T.C., Bellinger, D.A., Dillow, A., Verma, I.M. and Wilson, J.M. (2005) Sustained correction of disease in naive and AAV2-pretreated hemophilia B dogs: AAV2/8-mediated, liver-directed gene therapy. Blood, 105, 3079-3086.
-
(2005)
Blood
, vol.105
, pp. 3079-3086
-
-
Wang, L.1
Calcedo, R.2
Nichols, T.C.3
Bellinger, D.A.4
Dillow, A.5
Verma, I.M.6
Wilson, J.M.7
-
17
-
-
0033616680
-
Sustained correction of bleeding disorder in hemophilia B mice by gene therapy
-
C.R
-
Wang, L., Takabe, K., Bidlingmaier, S.M., III, C.R. and Verma, I.M. (1999) Sustained correction of bleeding disorder in hemophilia B mice by gene therapy. Proc. Natl Acad. Sci. USA, 96, 3906-3910.
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 3906-3910
-
-
Wang, L.1
Takabe, K.2
Bidlingmaier III, S.M.3
Verma, I.M.4
-
18
-
-
0023839303
-
The mannose 6-phosphate receptor and the biogenesis of lysosomes
-
Griffiths, G., Hoflack, B., Simons, K., Mellman, I. and Kornfeld, S. (1988) The mannose 6-phosphate receptor and the biogenesis of lysosomes. Cell, 52, 329-341.
-
(1988)
Cell
, vol.52
, pp. 329-341
-
-
Griffiths, G.1
Hoflack, B.2
Simons, K.3
Mellman, I.4
Kornfeld, S.5
-
19
-
-
0035194407
-
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
-
Voznyi, Y.V., Keulemans, J.L. and van Diggelen, O.P. (2001) A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J. Inherit. Metab. Dis., 24, 675-680.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 675-680
-
-
Voznyi, Y.V.1
Keulemans, J.L.2
van Diggelen, O.P.3
-
20
-
-
0035163792
-
Isolation of highly infectious and pure adeno-associated virus type 2 vectors with a single-step gravity-flow column
-
Auricchio, A., Hildinger, M., O'Connor, E., Gao, G.P. and Wilson, J.M. (2001) Isolation of highly infectious and pure adeno-associated virus type 2 vectors with a single-step gravity-flow column. Hum. Gene Ther., 12, 71-76.
-
(2001)
Hum. Gene Ther.
, vol.12
, pp. 71-76
-
-
Auricchio, A.1
Hildinger, M.2
O'Connor, E.3
Gao, G.P.4
Wilson, J.M.5
-
21
-
-
0036303882
-
Lysosomal disorders
-
Wraith, J.E. (2002) Lysosomal disorders. Semin. Neonatol., 7, 75-83.
-
(2002)
Semin. Neonatol.
, vol.7
, pp. 75-83
-
-
Wraith, J.E.1
-
22
-
-
2942687937
-
The cell biology of lysosomal storage disorders
-
Futerman, A.H. and van Meer, G. (2004) The cell biology of lysosomal storage disorders. Nat. Rev. Mol. Cell Biol, 5, 554-565.
-
(2004)
Nat. Rev. Mol. Cell Biol
, vol.5
, pp. 554-565
-
-
Futerman, A.H.1
van Meer, G.2
-
23
-
-
0014352329
-
Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts
-
Fratantoni, J.C., Hall, C.W. and Neufeld, E.F. (1968) Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts. Science, 162, 570-572.
-
(1968)
Science
, vol.162
, pp. 570-572
-
-
Fratantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
24
-
-
0033761804
-
Adeno-associated virus vectors for gene therapy: More pros than cons?
-
[In Process Citation]
-
Monahan, P.E. and Samulski, R.J. (2000) Adeno-associated virus vectors for gene therapy: More pros than cons? [In Process Citation]. Mol. Med. Today, 6, 433-440.
-
(2000)
Mol. Med. Today
, vol.6
, pp. 433-440
-
-
Monahan, P.E.1
Samulski, R.J.2
-
25
-
-
0034968125
-
Hybrid vectors based on adeno-associated virus serotypes 2 and 5 for muscle-directed gene transfer
-
Hildinger, M., Auricchio, A., Gao, G., Wang, L., Chirmule, N. and Wilson, J.M. (2001) Hybrid vectors based on adeno-associated virus serotypes 2 and 5 for muscle-directed gene transfer. J. Virol., 75, 6199-6203.
-
(2001)
J. Virol.
, vol.75
, pp. 6199-6203
-
-
Hildinger, M.1
Auricchio, A.2
Gao, G.3
Wang, L.4
Chirmule, N.5
Wilson, J.M.6
-
26
-
-
0035894739
-
Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: The retina as a model
-
Auricchio, A., Kobinger, G., Anand, V., Hildinger, M., O'Connor, E., Maguire, A.M., Wilson, J.M. and Bennett, J. (2001) Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: The retina as a model. Hum. Mol. Genet., 10, 3075-3081.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 3075-3081
-
-
Auricchio, A.1
Kobinger, G.2
Anand, V.3
Hildinger, M.4
O'Connor, E.5
Maguire, A.M.6
Wilson, J.M.7
Bennett, J.8
-
27
-
-
0034572459
-
Several log increase in therapeutic transgene delivery by distinct adeno-associated viral serotype vectors
-
Chao, H., Liu, Y., Rabinowitz, J., Li, C., Samulski, R.J. and Walsh, C.E. (2000) Several log increase in therapeutic transgene delivery by distinct adeno-associated viral serotype vectors. Mol. Ther., 2, 619-623.
-
(2000)
Mol. Ther.
, vol.2
, pp. 619-623
-
-
Chao, H.1
Liu, Y.2
Rabinowitz, J.3
Li, C.4
Samulski, R.J.5
Walsh, C.E.6
-
28
-
-
0036140216
-
Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity
-
Rabinowitz, J.E., Rolling, F., Li, C., Conrath, H., Xiao, W., Xiao, X. and Samulski, R.J. (2002) Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J. Virol., 76, 791-801.
-
(2002)
J. Virol.
, vol.76
, pp. 791-801
-
-
Rabinowitz, J.E.1
Rolling, F.2
Li, C.3
Conrath, H.4
Xiao, W.5
Xiao, X.6
Samulski, R.J.7
-
29
-
-
0036677468
-
Noninvasive gene transfer to the lung for systemic delivery of therapeutic proteins
-
Auricchio, A., O'Connor, E., Weiner, D., Gao, G.P., Hildinger, M., Wang, L., Calcedo, R. and Wilson, J.M. (2002) Noninvasive gene transfer to the lung for systemic delivery of therapeutic proteins. J. Clin. Invest., 110, 499-504.
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 499-504
-
-
Auricchio, A.1
O'Connor, E.2
Weiner, D.3
Gao, G.P.4
Hildinger, M.5
Wang, L.6
Calcedo, R.7
Wilson, J.M.8
-
30
-
-
0034026085
-
Adeno-associated virus type 5 (AAV5) but not AAV2 binds to the apical surfaces of airway epithelia and facilitates gene transfer
-
Zabner, J., Seiler, M., Walters, R., Kotin, R.M., Fulgeras, W., Davidson, B.L. and Chiorini, J.A. (2000) Adeno-associated virus type 5 (AAV5) but not AAV2 binds to the apical surfaces of airway epithelia and facilitates gene transfer. J. Virol., 74, 3852-3858.
-
(2000)
J. Virol.
, vol.74
, pp. 3852-3858
-
-
Zabner, J.1
Seiler, M.2
Walters, R.3
Kotin, R.M.4
Fulgeras, W.5
Davidson, B.L.6
Chiorini, J.A.7
-
31
-
-
19444365150
-
Comparison of the ability of adeno-associated viral vectors pseudotyped with serotype 2, 5, and 8 capsid proteins to mediate efficient transduction of the liver in murine and nonhuman primate models
-
Davidoff, A.M., Gray, J.T., Ng, C.Y., Zhang, Y., Zhou, J., Spence, Y., Bakar, Y. and Nathwani, A.C. (2005) Comparison of the ability of adeno-associated viral vectors pseudotyped with serotype 2, 5, and 8 capsid proteins to mediate efficient transduction of the liver in murine and nonhuman primate models. Mol. Ther., 11, 875-888.
-
(2005)
Mol. Ther.
, vol.11
, pp. 875-888
-
-
Davidoff, A.M.1
Gray, J.T.2
Ng, C.Y.3
Zhang, Y.4
Zhou, J.5
Spence, Y.6
Bakar, Y.7
Nathwani, A.C.8
-
32
-
-
28844452008
-
Biology of AAV serotype vectors in liver-directed gene transfer to nonhuman primates
-
Gao, G., Lu, Y., Calcedo, R., Grant, R.L., Bell, P., Wang, L., Figueredo, J., Lock, M. and Wilson, J.M. (2006) Biology of AAV serotype vectors in liver-directed gene transfer to nonhuman primates. Mol. Ther., 13, 77-87.
-
(2006)
Mol. Ther.
, vol.13
, pp. 77-87
-
-
Gao, G.1
Lu, Y.2
Calcedo, R.3
Grant, R.L.4
Bell, P.5
Wang, L.6
Figueredo, J.7
Lock, M.8
Wilson, J.M.9
-
33
-
-
0032066332
-
Clinical and morphologic features of mucopolysaccharidosis type II in a dog: Naturally occurring model of Hunter syndrome
-
Wilkerson, M.J., Lewis, D.C., Marks, S.L. and Prieur, D.J. (1998) Clinical and morphologic features of mucopolysaccharidosis type II in a dog: Naturally occurring model of Hunter syndrome. Vet. Pathol., 35, 230-233.
-
(1998)
Vet. Pathol.
, vol.35
, pp. 230-233
-
-
Wilkerson, M.J.1
Lewis, D.C.2
Marks, S.L.3
Prieur, D.J.4
-
34
-
-
4444229470
-
Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse
-
Sferra, T.J., Backstrom, K., Wang, C., Rennard, R., Miller, M. and Hu, Y. (2004) Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse. Mol. Ther., 10, 478-491.
-
(2004)
Mol. Ther.
, vol.10
, pp. 478-491
-
-
Sferra, T.J.1
Backstrom, K.2
Wang, C.3
Rennard, R.4
Miller, M.5
Hu, Y.6
-
35
-
-
5744254381
-
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: A preclinical animal study
-
Roces, D.P., Lullmann-Rauch, R., Peng, J., Balducci, C., Anderson, C., Tollersrud, O., Fogh, J., Orlacchio, A., Beccari, T., Saftig, P. et al. (2004) Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: A preclinical animal study. Hum. Mol. Genet., 13, 1979-1988.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1979-1988
-
-
Roces, D.P.1
Lullmann-Rauch, R.2
Peng, J.3
Balducci, C.4
Anderson, C.5
Tollersrud, O.6
Fogh, J.7
Orlacchio, A.8
Beccari, T.9
Saftig, P.10
-
36
-
-
26844534412
-
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII
-
Vogler, C., Levy, B., Grubb, J.H., Galvin, N., Tan, Y., Kakkis, E., Pavloff, N. and Sly, W.S. (2005) Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl Acad. Sci. USA, 102, 14777-14782.
-
(2005)
Proc. Natl Acad. Sci. USA
, vol.102
, pp. 14777-14782
-
-
Vogler, C.1
Levy, B.2
Grubb, J.H.3
Galvin, N.4
Tan, Y.5
Kakkis, E.6
Pavloff, N.7
Sly, W.S.8
-
37
-
-
0034633742
-
Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo
-
Gao, G., Qu, G., Burnham, M.S., Huang, J., Chirmule, N., Joshi, B., Yu, Q.C., Marsh, J.A., Conceicao, C.M. and Wilson, J.M. (2000) Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo. Hum. Gene Ther., 11, 2079-2091.
-
(2000)
Hum. Gene Ther.
, vol.11
, pp. 2079-2091
-
-
Gao, G.1
Qu, G.2
Burnham, M.S.3
Huang, J.4
Chirmule, N.5
Joshi, B.6
Yu, Q.C.7
Marsh, J.A.8
Conceicao, C.M.9
Wilson, J.M.10
-
38
-
-
0024361474
-
Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: A rapid screening procedure for mucopolysaccharidoses
-
de Jong, J.G., Wevers, R.A., Laarakkers, C. and Poorthuis, B.J. (1989) Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: A rapid screening procedure for mucopolysaccharidoses. Clin. Chem., 35, 1472-1477.
-
(1989)
Clin. Chem.
, vol.35
, pp. 1472-1477
-
-
de Jong, J.G.1
Wevers, R.A.2
Laarakkers, C.3
Poorthuis, B.J.4
-
39
-
-
0034752668
-
Open-field behavior of house mice selectively bred for high voluntary wheel-running
-
Bronikowski, A.M., Carter, P.A., Swallow, J.G., Girard, I.A., Rhodes, J.S. and Garland, T., Jr (2001) Open-field behavior of house mice selectively bred for high voluntary wheel-running. Behav. Genet., 31, 309-316.
-
(2001)
Behav. Genet.
, vol.31
, pp. 309-316
-
-
Bronikowski, A.M.1
Carter, P.A.2
Swallow, J.G.3
Girard, I.A.4
Rhodes, J.S.5
Garland Jr., T.6
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