-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver, C.R, Ed, McGraw-Hill, New York
-
Neufeld, E.F., Muenzer, J. The mucopolysaccharidoses. In: Scriver, C.R. (Ed.). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 2001, 3421-52.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
84878688337
-
-
Fenton, C. and Rogers, W., Mucopolysaccharidosis Type II. Available at http://www. emedicine.com
-
Fenton, C. and Rogers, W., Mucopolysaccharidosis Type II. Available at http://www. emedicine.com
-
-
-
-
3
-
-
0032998144
-
Long-term follow-up following bone marrow transplantation for Hunter disease
-
Vellodi, A., Young, E., Cooper, A., Lidchi, V., Winchester, B., Wraith, J.E. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999, 22(5): 638-48.
-
(1999)
J Inherit Metab Dis
, vol.22
, Issue.5
, pp. 638-648
-
-
Vellodi, A.1
Young, E.2
Cooper, A.3
Lidchi, V.4
Winchester, B.5
Wraith, J.E.6
-
4
-
-
0028929302
-
Bone marrow transplantation in Hunter syndrome
-
Coppa, G.V., Gabrielli, O., Zampini, L., Jetzequel, A.M., Miniero, R., Busca, A., De Luca, T., Di Natale, P. Bone marrow transplantation in Hunter syndrome. J Inherit Metab Dis 1995, 18(1): 91-2.
-
(1995)
J Inherit Metab Dis
, vol.18
, Issue.1
, pp. 91-92
-
-
Coppa, G.V.1
Gabrielli, O.2
Zampini, L.3
Jetzequel, A.M.4
Miniero, R.5
Busca, A.6
De Luca, T.7
Di Natale, P.8
-
5
-
-
0034024729
-
Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia
-
Mullen, C.A., Thompson, J.N., Richard, L.A., Chan, K.W. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. Bone Marrow Transplant 2000, 25(10): 1093-7.
-
(2000)
Bone Marrow Transplant
, vol.25
, Issue.10
, pp. 1093-1097
-
-
Mullen, C.A.1
Thompson, J.N.2
Richard, L.A.3
Chan, K.W.4
-
6
-
-
33745324691
-
Idursulfase: I2S, iduronato-2-sulfatase
-
Anonymous
-
Anonymous. Idursulfase: I2S, iduronato-2-sulfatase. Drugs R D 2006, 7: 254-8.
-
(2006)
Drugs R D
, vol.7
, pp. 254-258
-
-
-
7
-
-
70349609417
-
First treatment for Hunter syndrome
-
FDA
-
FDA. First treatment for Hunter syndrome. FDA Consum 2006, 40: 5.
-
(2006)
FDA Consum
, vol.40
, pp. 5
-
-
-
8
-
-
70349609390
-
Treatment for Hunter syndrome approved
-
FDA
-
FDA. Treatment for Hunter syndrome approved. FDA Consum 2006, 40: 4.
-
(2006)
FDA Consum
, vol.40
, pp. 4
-
-
-
10
-
-
37249033169
-
Clinical study of enzyme replacement therapy with idursulfase
-
Gutierrez-Solana, L.G. Clinical study of enzyme replacement therapy with idursulfase. Rev Neurol. 2007, 44 Suppl 1: S7-S11.
-
(2007)
Rev Neurol
, vol.44
, Issue.SUPPL. 1
-
-
Gutierrez-Solana, L.G.1
-
11
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle, P.J., Hopwood, J.J., Clague, A.E., Carey, W.F. Prevalence of lysosomal storage disorders. JAMA 1999, 281(3): 249-54.
-
(1999)
JAMA
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
12
-
-
0019990520
-
Incidence of Hunter's syndrome
-
Young, I.D., Harper, P.S. Incidence of Hunter's syndrome. Hum Genet 1982, 60(4): 391-2.
-
(1982)
Hum Genet
, vol.60
, Issue.4
, pp. 391-392
-
-
Young, I.D.1
Harper, P.S.2
-
13
-
-
84878676944
-
-
Available at
-
Balaghova, J., Schwartz, R.A., Baranova, Z., Halagovec, A. Mucopolysaccharidoses Types I-VII. Available at http://www.emedicine.com
-
Mucopolysaccharidoses Types I-VII
-
-
Balaghova, J.1
Schwartz, R.A.2
Baranova, Z.3
Halagovec, A.4
-
14
-
-
15744375829
-
Mucopolysaccharidosis type II in females: Case report and review of literature
-
Tuschl, K., Gal, A., Paschke, E., Kircher, S., Bodamer, O.A. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol 2005, 32(4): 270-2.
-
(2005)
Pediatr Neurol
, vol.32
, Issue.4
, pp. 270-272
-
-
Tuschl, K.1
Gal, A.2
Paschke, E.3
Kircher, S.4
Bodamer, O.A.5
-
15
-
-
2342589511
-
The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations
-
Muenzer, J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004, 144: S27-34.
-
(2004)
J Pediatr
, vol.144
-
-
Muenzer, J.1
-
16
-
-
0038685050
-
Significance of extensive Mongolian spots in Hunter's syndrome
-
Ochiai, T., Ito, K., Okada, T., Chin, M., Shichino, H., Mugishima, H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol 2003, 148(6): 1173-8.
-
(2003)
Br J Dermatol
, vol.148
, Issue.6
, pp. 1173-1178
-
-
Ochiai, T.1
Ito, K.2
Okada, T.3
Chin, M.4
Shichino, H.5
Mugishima, H.6
-
17
-
-
0029206452
-
Hunter's syndrome as a cause of childhood carpal tunnel syndrome: A report of three cases
-
Norman-Taylor, F., Fixsen, J.A., Sharrard, W.J. Hunter's syndrome as a cause of childhood carpal tunnel syndrome: a report of three cases. J Pediatr Orthop B 1995, 4(1): 106-9.
-
(1995)
J Pediatr Orthop B
, vol.4
, Issue.1
, pp. 106-109
-
-
Norman-Taylor, F.1
Fixsen, J.A.2
Sharrard, W.J.3
-
18
-
-
4043166232
-
The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome
-
Ito, K., Ochiai, T., Suzuki, H. et al. The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome. Br J Dermatol 2004, 151(1): 207-11.
-
(2004)
Br J Dermatol
, vol.151
, Issue.1
, pp. 207-211
-
-
Ito, K.1
Ochiai, T.2
Suzuki, H.3
-
19
-
-
23844470630
-
Ultrastructural findings of cutaneous nerves in patients with Hunter's syndrome following hematopoietic stem cell transplant
-
Ochiai, T., Ito, K., Shichino, H., Chin, M., Mugishima, H. Ultrastructural findings of cutaneous nerves in patients with Hunter's syndrome following hematopoietic stem cell transplant. Med Mol Morphol 2005, 38(2): 118-22.
-
(2005)
Med Mol Morphol
, vol.38
, Issue.2
, pp. 118-122
-
-
Ochiai, T.1
Ito, K.2
Shichino, H.3
Chin, M.4
Mugishima, H.5
-
20
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis, E.D., Schuchman, E., He, X., Wan, Q., Kania, S., Wiemelt, S., Hasson, C.W., O'Malley, T., Weil, M.A., Aguirre, G.A., Brown, D.E., Haskins, M.E. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001, 344(3): 182-8.
-
(2001)
N Engl J Med
, vol.344
, Issue.3
, pp. 182-188
-
-
Kakkis, E.D.1
Schuchman, E.2
He, X.3
Wan, Q.4
Kania, S.5
Wiemelt, S.6
Hasson, C.W.7
O'Malley, T.8
Weil, M.A.9
Aguirre, G.A.10
Brown, D.E.11
Haskins, M.E.12
-
21
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
Wraith, J.E., Clarke, L.A., Beck, M. et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004, 144(5): 581-8.
-
(2004)
J Pediatr
, vol.144
, Issue.5
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
-
22
-
-
33744978567
-
MPS VI Phase 3 Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or RHASB) and follow-on, open-label extension study
-
Harmatz, P., Giugliani, R., Schwartz, I. et al. MPS VI Phase 3 Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or RHASB) and follow-on, open-label extension study. J Pediatr 2006, 148(4): 533-9.
-
(2006)
J Pediatr
, vol.148
, Issue.4
, pp. 533-539
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.3
-
23
-
-
0035811624
-
International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human [alpha]-galactosidase A replacement therapy in Fabry's disease
-
Eng, C.M., Guffon, N., Wilcox, W.R. et al. International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human [alpha]-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001, 345(1): 9-16.
-
(2001)
N Engl J Med
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
24
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann, R., Kopp, J.B., Austin, H.A. 3rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001, 285(21): 2743-9.
-
(2001)
JAMA
, vol.285
, Issue.21
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin 3rd, H.A.3
-
25
-
-
3142554529
-
International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox, W.R., Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G.E., Desnick, R.J., Germain, D.P. International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004; 75(1): 65-74.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
Desnick, R.J.7
Germain, D.P.8
-
26
-
-
0033559287
-
Immunosurveillance of-alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeat 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 repeat administration. Blood 1999, 93(6): 2081-8.
-
(1999)
Blood
, vol.93
, Issue.6
, pp. 2081-2088
-
-
Rosenberg, M.1
Kingma, W.2
Fitzpatrick, M.A.3
Richards, S.M.4
-
27
-
-
84878718301
-
-
MICROMEDEX® Healthcare Series. Idursulfase
-
MICROMEDEX® Healthcare Series. Idursulfase.
-
-
-
-
28
-
-
84878685095
-
-
Product Information. ELAPRASE™ IV injection, idursulfase IV injection. Shire Human Genetic Therapies, Inc, Cambridge, MA, 2006.
-
Product Information. ELAPRASE™ IV injection, idursulfase IV injection. Shire Human Genetic Therapies, Inc, Cambridge, MA, 2006.
-
-
-
-
29
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer, J., Wraith, J.E., Beck, M. et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006, 8(8): 465-73.
-
(2006)
Genet Med
, vol.8
, Issue.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
-
30
-
-
0031752338
-
Hunter disease in the Spanish population: Molecular analysis in 31 families
-
Gort, L., Chabas, A., Coll, M.J. Hunter disease in the Spanish population: molecular analysis in 31 families. J Inherit Metab Dis 1998, 21(6): 655-61.
-
(1998)
J Inherit Metab Dis
, vol.21
, Issue.6
, pp. 655-661
-
-
Gort, L.1
Chabas, A.2
Coll, M.J.3
-
31
-
-
0030747375
-
Molecular analysis in 23 Hunter disease families
-
Lissens, W., Seneca, S., Liebaers, I. Molecular analysis in 23 Hunter disease families. J Inherit Metab Dis 1997, 20(3): 453-6.
-
(1997)
J Inherit Metab Dis
, vol.20
, Issue.3
, pp. 453-456
-
-
Lissens, W.1
Seneca, S.2
Liebaers, I.3
-
32
-
-
0031044151
-
Molecular and phenotypic variation in patients with severe Hunter syndrome
-
Timms, K.M., Bondeson, M.L., Ansari-Lari, M.A., Lagerstedt, K., et al. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 1997, 6(3): 479-86.
-
(1997)
Hum Mol Genet
, vol.6
, Issue.3
, pp. 479-486
-
-
Timms, K.M.1
Bondeson, M.L.2
Ansari-Lari, M.A.3
Lagerstedt, K.4
-
33
-
-
0031664386
-
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)
-
Vafiadaki, E., Cooper, A., Heptinstall, L.E., Hatton, C.E., Thornley, M., Wraith, J.E. Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch Dis Child 1998, 79(3): 237-41.
-
(1998)
Arch Dis Child
, vol.79
, Issue.3
, pp. 237-241
-
-
Vafiadaki, E.1
Cooper, A.2
Heptinstall, L.E.3
Hatton, C.E.4
Thornley, M.5
Wraith, J.E.6
-
34
-
-
0032933620
-
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
-
Li, P., Bellows, A.B., Thompson, J.N. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J Med Genet 1999, 36(1): 21-7.
-
(1999)
J Med Genet
, vol.36
, Issue.1
, pp. 21-27
-
-
Li, P.1
Bellows, A.B.2
Thompson, J.N.3
-
35
-
-
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., Gal, A. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 1993, 2(6): 435-42.
-
(1993)
Hum Mutat
, vol.2
, Issue.6
, 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
-
36
-
-
34248587050
-
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II
-
Garcia, A.R., Dacosta, J.M., Pan, J., Muenzer, J., Lamsa, J.C. Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II. Mol Genet Metab 2007, 91(2): 183-90.
-
(2007)
Mol Genet Metab
, vol.91
, Issue.2
, pp. 183-190
-
-
Garcia, A.R.1
Dacosta, J.M.2
Pan, J.3
Muenzer, J.4
Lamsa, J.C.5
-
37
-
-
0036984005
-
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): A preliminary report
-
Muenzer, J., Lamsa, J.C., Garcia, A., Dacosta, J., Garcia, J., Treco, D.A. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl 2002, 91(439): 98-9.
-
(2002)
Acta Paediatr Suppl
, vol.91
, Issue.439
, pp. 98-99
-
-
Muenzer, J.1
Lamsa, J.C.2
Garcia, A.3
Dacosta, J.4
Garcia, J.5
Treco, D.A.6
-
38
-
-
33846899175
-
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer, J., Gucsavas-Calikoglu, M., McCandless, S.E., Schuetz, T.J., Kimura, A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 2007, 90(3): 329-37.
-
(2007)
Mol Genet Metab
, vol.90
, Issue.3
, pp. 329-337
-
-
Muenzer, J.1
Gucsavas-Calikoglu, M.2
McCandless, S.E.3
Schuetz, T.J.4
Kimura, A.5
-
39
-
-
0037927848
-
Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome
-
Hong, Y., Yu, S.S., Kim, J.M., Lee, K., Na, Y.S., Whitley, C.B., Sugimoto, Y., Kim. S. Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome. J Gene Med 2003, 5(1): 18-29.
-
(2003)
J Gene Med
, vol.5
, Issue.1
, pp. 18-29
-
-
Hong, Y.1
Yu, S.S.2
Kim, J.M.3
Lee, K.4
Na, Y.S.5
Whitley, C.B.6
Sugimoto, Y.7
Kim, S.8
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