-
2
-
-
84876092434
-
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
-
M.M. Brands, I.M. Frohn-Mulder, M.L. Hagemans, W.C. Hop, E. Oussoren, W.A. Helbing, and et al. Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI J Inherit Metab Dis 36 2013 227 234
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 227-234
-
-
Brands, M.M.1
Frohn-Mulder, I.M.2
Hagemans, M.L.3
Hop, W.C.4
Oussoren, E.5
Helbing, W.A.6
-
3
-
-
78349313662
-
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS)
-
C. Alcalde-Martín, J.M. Muro-Tudelilla, R. Cancho-Candela, L.G. Gutiérrez-Solana, G. Pintos-Morell, M. Martí-Herrero, and et al. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS) Eur J Med Genet 53 2010 371 377
-
(2010)
Eur J Med Genet
, vol.53
, pp. 371-377
-
-
Alcalde-Martín, C.1
Muro-Tudelilla, J.M.2
Cancho-Candela, R.3
Gutiérrez-Solana, L.G.4
Pintos-Morell, G.5
Martí-Herrero, M.6
-
4
-
-
80051523644
-
Hunter disease before and during enzyme replacement therapy
-
B. Hoffmann, G. Schulze-Frenking, S. Al-Sawaf, M. Beck, and E. Mayatepek Hunter disease before and during enzyme replacement therapy Pediatr Neurol 45 2011 181 184
-
(2011)
Pediatr Neurol
, vol.45
, pp. 181-184
-
-
Hoffmann, B.1
Schulze-Frenking, G.2
Al-Sawaf, S.3
Beck, M.4
Mayatepek, E.5
-
5
-
-
84859938798
-
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
-
A.C. Brusius-Facchin, C.F. De Souza, I.V. Schwartz, M. Riegel, M.I. Melaragno, P. Correia, and et al. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes Am J Med Genet 158A 2012 1055 1059
-
(2012)
Am J Med Genet
, vol.158 A
, pp. 1055-1059
-
-
Brusius-Facchin, A.C.1
De Souza, C.F.2
Schwartz, I.V.3
Riegel, M.4
Melaragno, M.I.5
Correia, P.6
-
7
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
F. Baehner, C. Schmiedeskamp, F. Krummenauer, E. Miebach, M. Bajbouj, C. Whybra, and 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
Miebach, E.4
Bajbouj, M.5
Whybra, C.6
-
8
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
J.E. Wraith, M. Scarpa, M. Beck, O.A. Bodamer, L. De Meirleir, N. Guffon, and 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
-
9
-
-
69449091683
-
Mortality and cause of death in mucopolysaccharidosis type II - a historical review based on data from the Hunter Outcome Survey (HOS)
-
S.A. Jones, Z. Almassy, M. Beck, K. Burt, J.T. Clarke, R. Giugliani, and et al. Mortality and cause of death in mucopolysaccharidosis type II - a historical review based on data from the Hunter Outcome Survey (HOS) J Inherit Metab Dis 32 2009 534 543
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 534-543
-
-
Jones, S.A.1
Almassy, Z.2
Beck, M.3
Burt, K.4
Clarke, J.T.5
Giugliani, R.6
-
10
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
-
R. Martin, M. Beck, C. Eng, R. Giugliani, P. Harmatz, V.G. Muñoz, and et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome) Pediatrics 121 2008 377 386
-
(2008)
Pediatrics
, vol.121
, pp. 377-386
-
-
Martin, R.1
Beck, M.2
Eng, C.3
Giugliani, R.4
Harmatz, P.5
Muñoz, V.G.6
-
11
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
J. Muenzer, J.E. Wraith, M. Beck, R. Giugliani, P. Harmatz, C.M. Eng, and 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
-
12
-
-
33846899175
-
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
-
J. Muenzer, M. Gucsavas-Calikoglu, S.E. McCandless, T.J. Schuetz, and A. Kimura 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
-
-
79951578486
-
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
-
J. Muenzer, M. Beck, C.M. Eng, R. Giugliani, P. Harmatz, R. Martin, and et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome Genet Med 13 2011 95 101
-
(2011)
Genet Med
, vol.13
, pp. 95-101
-
-
Muenzer, J.1
Beck, M.2
Eng, C.M.3
Giugliani, R.4
Harmatz, P.5
Martin, R.6
-
14
-
-
79951576876
-
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey
-
J. Muenzer, M. Beck, R. Giugliani, Y. Suzuki, A. Tylki-Szymanska, V. Valayannopoulos, and et al. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey Genet Med 13 2011 102 109
-
(2011)
Genet Med
, vol.13
, pp. 102-109
-
-
Muenzer, J.1
Beck, M.2
Giugliani, R.3
Suzuki, Y.4
Tylki-Szymanska, A.5
Valayannopoulos, V.6
-
15
-
-
84856224296
-
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy
-
A. Jurecka, Z. Krumina, Z. Zuber, A. Rózdzyńska-͆wiątkowska, A. Kłoska, B. Czartoryska, and et al. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy Am J Med Genet A 158A 2012 450 454
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 450-454
-
-
Jurecka, A.1
Krumina, Z.2
Zuber, Z.3
Rózdzyńska-͆wiątkowska, A.4
Kłoska, A.5
Czartoryska, B.6
-
16
-
-
33745943855
-
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I
-
E.A. Braunlin, J.M. Berry, and C.B. Whitley Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I Am J Cardiol 98 2006 416 418
-
(2006)
Am J Cardiol
, vol.98
, pp. 416-418
-
-
Braunlin, E.A.1
Berry, J.M.2
Whitley, C.B.3
-
17
-
-
66149099295
-
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
-
V. Fesslová, P. Corti, G. Sersale, A. Rovelli, P. Russo, S. Mannarino, and et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses Cardiol Young 19 2009 170 178
-
(2009)
Cardiol Young
, vol.19
, pp. 170-178
-
-
Fesslová, V.1
Corti, P.2
Sersale, G.3
Rovelli, A.4
Russo, P.5
Mannarino, S.6
-
18
-
-
80355132630
-
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
-
M. Scarpa, Z. Almássy, M. Beck, O. Bodamer, I.A. Bruce, L. De Meirleir, and et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease Orphanet J Rare Dis 6 2011 72
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 72
-
-
Scarpa, M.1
Almássy, Z.2
Beck, M.3
Bodamer, O.4
Bruce, I.A.5
De Meirleir, L.6
-
19
-
-
79956262492
-
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)
-
B.K. Burton, D.A. Whiteman HOS Investigators Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS) Mol Genet Metab 103 2011 113 120
-
(2011)
Mol Genet Metab
, vol.103
, pp. 113-120
-
-
Burton, B.K.1
Whiteman, D.A.2
-
20
-
-
84855566637
-
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
-
B. Link, L.L. de Camargo Pinto, R. Giugliani, J.E. Wraith, N. Guffon, E. Eich, and et al. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey Orthop Rev (Pavia) 2 2010 e16
-
(2010)
Orthop Rev (Pavia)
, vol.2
, pp. e16
-
-
Link, B.1
De Camargo Pinto, L.L.2
Giugliani, R.3
Wraith, J.E.4
Guffon, N.5
Eich, E.6
-
21
-
-
84921663046
-
Enzyme replacement therapy in mucopolysaccharidosis II patients under 1 year of age
-
C. Lampe, A. Atherton, B.K. Burton, M. Descartes, R. Giugliani, D.D. Horovitz, and et al. Enzyme replacement therapy in mucopolysaccharidosis II patients under 1 year of age JIMD Rep 14 2014 99 113
-
(2014)
JIMD Rep
, vol.14
, pp. 99-113
-
-
Lampe, C.1
Atherton, A.2
Burton, B.K.3
Descartes, M.4
Giugliani, R.5
Horovitz, D.D.6
-
22
-
-
84880924608
-
The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: evaluation of measurement properties
-
I. Wiklund, M. Raluy-Callado, D.E. Stull, Y. Jangelind, D.A. Whiteman, and W.H. Chen The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: evaluation of measurement properties Qual Life Res 2012 10.1007/s11136-012-0196-5
-
(2012)
Qual Life Res
-
-
Wiklund, I.1
Raluy-Callado, M.2
Stull, D.E.3
Jangelind, Y.4
Whiteman, D.A.5
Chen, W.H.6
-
23
-
-
37549039029
-
Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry
-
M. Del Toro-Riera Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry Rev Neurol 1 2007 S13 S17
-
(2007)
Rev Neurol
, vol.1
, pp. S13-S17
-
-
Del Toro-Riera, M.1
-
24
-
-
71649090838
-
Japan Elaprase® Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (mucopolysaccharidosis II, MPS II)
-
T. Okuyama, A. Tanaka, Y. Suzuki, H. Ida, T. Tanaka, G.F. Cox, and et al. Japan Elaprase® Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (mucopolysaccharidosis II, MPS II) Mol Genet Metab 99 2010 18 25
-
(2010)
Mol Genet Metab
, vol.99
, pp. 18-25
-
-
Okuyama, T.1
Tanaka, A.2
Suzuki, Y.3
Ida, H.4
Tanaka, T.5
Cox, G.F.6
-
25
-
-
35448943425
-
Successful treatment of severe heart failure in an infant with Hurler syndrome
-
A. Hirth, A. Berg, and G. Greve Successful treatment of severe heart failure in an infant with Hurler syndrome J Inherit Metab Dis 30 2007 820
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 820
-
-
Hirth, A.1
Berg, A.2
Greve, G.3
-
26
-
-
34447121276
-
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human α-l-iduronidase (laronidase)
-
J.E. Wraith, M. Beck, R. Lane, A. van der Ploeg, E. Shapiro, Y. Xue, and et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human α-l-iduronidase (laronidase) Pediatrics 120 2007 e37 e46
-
(2007)
Pediatrics
, vol.120
, pp. e37-e46
-
-
Wraith, J.E.1
Beck, M.2
Lane, R.3
Van Der Ploeg, A.4
Shapiro, E.5
Xue, Y.6
-
27
-
-
69049101187
-
Mucopolysaccharidosis VI: the Italian experience
-
M. Scarpa, R. Barone, A. Fiumara, L. Astarita, G. Parenti, A. Rampazzo, and et al. Mucopolysaccharidosis VI: the Italian experience Eur J Pediatr 168 2009 1203 1206
-
(2009)
Eur J Pediatr
, vol.168
, pp. 1203-1206
-
-
Scarpa, M.1
Barone, R.2
Fiumara, A.3
Astarita, L.4
Parenti, G.5
Rampazzo, A.6
-
28
-
-
84860298907
-
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls
-
B.K. Burton, and R. Giugliani Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls Eur J Pediatr 171 2012 631 639
-
(2012)
Eur J Pediatr
, vol.171
, pp. 631-639
-
-
Burton, B.K.1
Giugliani, R.2
-
30
-
-
84893664730
-
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients
-
A.C. Brusius-Facchin, I.V. Schwartz, C. Zimmer, M.G. Ribeiro, A.X. Acosta, D. Horovitz, and et al. Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients Mol Genet Metab 111 2014 133 138
-
(2014)
Mol Genet Metab
, vol.111
, pp. 133-138
-
-
Brusius-Facchin, A.C.1
Schwartz, I.V.2
Zimmer, C.3
Ribeiro, M.G.4
Acosta, A.X.5
Horovitz, D.6
-
31
-
-
84863364588
-
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
-
O.J. Lee, S.J. Kim, Y.B. Sohn, H.D. Park, S.Y. Lee, C.H. Kim, and et al. A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients Korean J Pediatr 55 2012 88 92
-
(2012)
Korean J Pediatr
, vol.55
, pp. 88-92
-
-
Lee, O.J.1
Kim, S.J.2
Sohn, Y.B.3
Park, H.D.4
Lee, S.Y.5
Kim, C.H.6
|