-
1
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
Wraith J.E., Scarpa M., Beck M., et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167 (2008) 267-277
-
(2008)
Eur J Pediatr
, vol.167
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
-
2
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
Baehner F., Schmiedeskamp C., Krummenauer F., et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28 (2005) 1011-1017
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 1011-1017
-
-
Baehner, F.1
Schmiedeskamp, C.2
Krummenauer, F.3
-
3
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis B.J., Wevers R.A., Kleijer W.J., et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105 (1999) 151-156
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
-
4
-
-
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
-
5
-
-
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 8 (2006) 465-473
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
-
6
-
-
38349068921
-
Idursulfase in Hunter syndrome treatment
-
Zareba G. Idursulfase in Hunter syndrome treatment. Drugs Today (Barc) 43 (2007) 759-767
-
(2007)
Drugs Today (Barc)
, vol.43
, pp. 759-767
-
-
Zareba, G.1
-
7
-
-
0031926575
-
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
-
Guffon N., Souillet G., Maire I., Straczek J., and Guibaud P. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 133 (1998) 119-125
-
(1998)
J Pediatr
, vol.133
, pp. 119-125
-
-
Guffon, N.1
Souillet, G.2
Maire, I.3
Straczek, J.4
Guibaud, P.5
-
8
-
-
10744223978
-
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
-
Souillet G., Guffon N., Maire I., et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 31 (2003) 1105-1117
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 1105-1117
-
-
Souillet, G.1
Guffon, N.2
Maire, I.3
-
9
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
-
Peters C., Balthazor M., Shapiro E.G., et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87 (1996) 4894-4902
-
(1996)
Blood
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.G.3
-
10
-
-
0005075018
-
The evolution of displacement bone marrow transplantation for inborn errors
-
Hobbs J. (Ed), The COGENT Fund, London
-
Hobbs J. The evolution of displacement bone marrow transplantation for inborn errors. In: Hobbs J. (Ed). Correction of Certain Genetic Diseases by Transplantation (1989), The COGENT Fund, London 1-22
-
(1989)
Correction of Certain Genetic Diseases by Transplantation
, pp. 1-22
-
-
Hobbs, J.1
-
11
-
-
0015804158
-
Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells
-
Hall C.W., and Neufeld E.F. Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys 158 (1973) 817-821
-
(1973)
Arch Biochem Biophys
, vol.158
, pp. 817-821
-
-
Hall, C.W.1
Neufeld, E.F.2
-
12
-
-
0027769540
-
Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples
-
Piraud M., Boyer S., Mathieu M., and Maire I. Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples. Clin Chim Acta 221 (1993) 171-181
-
(1993)
Clin Chim Acta
, vol.221
, pp. 171-181
-
-
Piraud, M.1
Boyer, S.2
Mathieu, M.3
Maire, I.4
-
13
-
-
0026554528
-
Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi
-
Young E.P. Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi. J Inherit Metab Dis 15 (1992) 224-230
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 224-230
-
-
Young, E.P.1
-
14
-
-
84987385128
-
Characterization of a panel of highly variable minisatellites cloned from human DNA
-
Wong Z., Wilson V., Patel I., Povey S., and Jeffreys A.J. Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann Hum Genet 51 (1987) 269-288
-
(1987)
Ann Hum Genet
, vol.51
, pp. 269-288
-
-
Wong, Z.1
Wilson, V.2
Patel, I.3
Povey, S.4
Jeffreys, A.J.5
-
15
-
-
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. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 22 (1999) 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
-
16
-
-
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., and Chan K.W. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. BMT 25 (2000) 1093-1099
-
(2000)
BMT
, vol.25
, pp. 1093-1099
-
-
Mullen, C.A.1
Thompson, J.N.2
Richard, L.A.3
Chan, K.W.4
-
17
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
Wraith J.E., Scarpa M., Beck M., Bodamer O.A., De Meirleir L., Guffon N., et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167 (2008) 267-277
-
(2008)
Eur J Pediatr
, vol.167
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
Bodamer, O.A.4
De Meirleir, L.5
Guffon, N.6
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