-
2
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds), McGraw-Hill, New York
-
Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The metabolic and molecular bases of inherited diseases (2001), McGraw-Hill, New York 3421-3452
-
(2001)
The metabolic and molecular bases of inherited diseases
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
3
-
-
27844491492
-
Current and emerging therapies for the lysosomal storage disorders
-
Pastores G.M., and Barnett N.L. Current and emerging therapies for the lysosomal storage disorders. Expert Opin Emerg Drugs 10 (2005) 891-902
-
(2005)
Expert Opin Emerg Drugs
, vol.10
, pp. 891-902
-
-
Pastores, G.M.1
Barnett, N.L.2
-
4
-
-
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., Giugliani R., Harmatz P., Eng C.M., et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8 (2006) 465-473
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
Giugliani, R.4
Harmatz, P.5
Eng, C.M.6
-
5
-
-
0035999743
-
Enzyme replacement therapy for the mucopolysaccharide storage disorders
-
Kakkis E.D. Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opin Investig Drugs 11 (2002) 675-685
-
(2002)
Expert Opin Investig Drugs
, vol.11
, pp. 675-685
-
-
Kakkis, E.D.1
-
6
-
-
33744978567
-
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., Guffon N., Teles E.L., Miranda M.C., et al. 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 148 (2006) 533-539
-
(2006)
J Pediatr
, vol.148
, pp. 533-539
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.6
-
7
-
-
0025666525
-
The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment
-
Hopwood J.J., and Morris C.P. The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment. Mol Biol Med 7 (1990) 381-404
-
(1990)
Mol Biol Med
, vol.7
, pp. 381-404
-
-
Hopwood, J.J.1
Morris, C.P.2
-
8
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis E.D., Muenzer J., Tiller G.E., Waber L., Belmont J., Passage M., 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
Waber, L.4
Belmont, J.5
Passage, M.6
-
9
-
-
0035000479
-
Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties
-
Wraith J.E. Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties. J Inherit Metab Dis 24 (2001) 245-250
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 245-250
-
-
Wraith, J.E.1
-
10
-
-
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., Kolodny E.H., Pastores G.M., Muenzer J., 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 144 (2004) 581-588
-
(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
-
11
-
-
15944374314
-
Laronidase treatment of mucopolysaccharidosis I
-
Wraith J.E., Hopwood J.J., Fuller M., Meikle P.J., and Brooks D.A. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 19 (2005) 1-7
-
(2005)
BioDrugs
, vol.19
, pp. 1-7
-
-
Wraith, J.E.1
Hopwood, J.J.2
Fuller, M.3
Meikle, P.J.4
Brooks, D.A.5
-
12
-
-
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., and Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 90 (2007) 329-337
-
(2007)
Mol Genet Metab
, vol.90
, pp. 329-337
-
-
Muenzer, J.1
Gucsavas-Calikoglu, M.2
McCandless, S.E.3
Schuetz, T.J.4
Kimura, A.5
-
13
-
-
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., Giugliani R., Harmatz P., Eng C.M., et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8 (2006) 465-473
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
Giugliani, R.4
Harmatz, P.5
Eng, C.M.6
-
14
-
-
1542669902
-
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
-
Harmatz P., Whitley C.B., Waber L., Pais R., Steiner R., Plecko B., et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 144 (2004) 574-580
-
(2004)
J Pediatr
, vol.144
, pp. 574-580
-
-
Harmatz, P.1
Whitley, C.B.2
Waber, L.3
Pais, R.4
Steiner, R.5
Plecko, B.6
-
15
-
-
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 E.L., Miranda M.C., 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 115 (2005) e681-e689
-
(2005)
Pediatrics
, vol.115
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.6
-
16
-
-
33746284598
-
Newborn screening for lysosomal storage disorders
-
Meikle P.J., Grasby D.J., Dean C.J., Lang D.L., Bockmann M., Whittle A.M., et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 88 (2006) 307-314
-
(2006)
Mol Genet Metab
, vol.88
, pp. 307-314
-
-
Meikle, P.J.1
Grasby, D.J.2
Dean, C.J.3
Lang, D.L.4
Bockmann, M.5
Whittle, A.M.6
-
17
-
-
17744388985
-
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
-
Wang D., Eadala B., Sadilek M., Chamoles N.A., Turecek F., Scott C.R., et al. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 51 (2005) 898-900
-
(2005)
Clin Chem
, vol.51
, pp. 898-900
-
-
Wang, D.1
Eadala, B.2
Sadilek, M.3
Chamoles, N.A.4
Turecek, F.5
Scott, C.R.6
-
18
-
-
33845966431
-
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease)
-
Wang D., Wood T., Sadilek M., Scott C.R., Turecek F., and Gelb M.H. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem 53 (2007) 137-140
-
(2007)
Clin Chem
, vol.53
, pp. 137-140
-
-
Wang, D.1
Wood, T.2
Sadilek, M.3
Scott, C.R.4
Turecek, F.5
Gelb, M.H.6
-
19
-
-
34248344253
-
Newborn screening for mucopolysaccharidoses: opinions of patients and their families
-
Hayes I.M., Collins V., Sahhar M., Wraith J.E., and Delatycki M.B. Newborn screening for mucopolysaccharidoses: opinions of patients and their families. Clin Genet 71 (2007) 446-450
-
(2007)
Clin Genet
, vol.71
, pp. 446-450
-
-
Hayes, I.M.1
Collins, V.2
Sahhar, M.3
Wraith, J.E.4
Delatycki, M.B.5
-
20
-
-
2942588994
-
Enzyme replacement and enhancement therapies for lysosomal diseases
-
Desnick R.J. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 27 (2004) 385-410
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 385-410
-
-
Desnick, R.J.1
-
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., Kolodny E.H., Pastores G.M., Muenzer J., 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 144 (2004) 581-588
-
(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
-
22
-
-
33745506072
-
Lysosomal storage diseases: natural history and ethical and economic aspects
-
Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. Mol Genet Metab 88 (2006) 208-215
-
(2006)
Mol Genet Metab
, vol.88
, pp. 208-215
-
-
Beutler, E.1
-
23
-
-
0029914486
-
The cost of treating Gaucher disease
-
Beutler E. The cost of treating Gaucher disease. Nat Med 2 (1996) 523-524
-
(1996)
Nat Med
, vol.2
, pp. 523-524
-
-
Beutler, E.1
-
24
-
-
23844490950
-
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations
-
Sheela S.R., Latha M., Liu P., Lem K., and Kaler S.G. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet 68 (2005) 278-283
-
(2005)
Clin Genet
, vol.68
, pp. 278-283
-
-
Sheela, S.R.1
Latha, M.2
Liu, P.3
Lem, K.4
Kaler, S.G.5
-
25
-
-
0031670398
-
Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease
-
Elstein D., Abrahamov A., and Zimran A. Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease. Clin Genet 54 (1998) 179-184
-
(1998)
Clin Genet
, vol.54
, pp. 179-184
-
-
Elstein, D.1
Abrahamov, A.2
Zimran, A.3
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