-
2
-
-
33947590635
-
A clinical study of 77 patients with mucopolysaccharidosis type II
-
Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, et al. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl 2007; 96:63-70.
-
(2007)
Acta Paediatr
, vol.96
, Issue.SUPPL.
, pp. 63-70
-
-
Schwartz, I.V.1
Ribeiro, M.G.2
Mota, J.G.3
Toralles, M.B.4
Correia, P.5
Horovitz, D.6
-
3
-
-
84925952402
-
Mucopolysaccharidosis type II
-
In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors, Seattle: University of Washington, Seattle; 1993-2007
-
Scarpa M. Mucopolysaccharidosis type II. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews. Seattle: University of Washington, Seattle; 1993-2007. http://www.ncbi.nlm.nih.gov/ books/NBK1116/.
-
GeneReviews
-
-
Scarpa, M.1
-
4
-
-
41049096402
-
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II
-
Wraith JE. Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta Paediatr Suppl 2008; 97:76-8.
-
(2008)
Acta Paediatr
, vol.97
, Issue.SUPPL.
, pp. 76-78
-
-
Wraith, J.E.1
-
5
-
-
76949102597
-
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
-
Schwartz IVD, Pinto LLC, Breda G, Lima L, Ribeiro MG, Mota JG, et al. Clinical and biochemical studies in mucopolysaccharidosis type II carriers. J Inherit Metab Dis 2009; 32:732-8.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 732-738
-
-
Schwartz, I.V.D.1
Pinto, L.L.C.2
Breda, G.3
Lima, L.4
Ribeiro, M.G.5
Mota, J.G.6
-
6
-
-
78650656891
-
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations
-
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, et al. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations. Am J Med Genet A 2001; 155A:50-7.
-
(2001)
Am J Med Genet A
, vol.155 A
, pp. 50-57
-
-
de Camargo Pinto, L.L.1
Maluf, S.W.2
Leistner-Segal, S.3
Zimmer da Silva, C.4
Brusius-Facchin, A.5
Burin, M.G.6
-
9
-
-
32544454167
-
An emerging consensus on grading recommendations?
-
Guyatt G, Vist G, Falck-Ytter Y, Kunz R, Magrini N, Schunemann H. An emerging consensus on grading recommendations? Evid Based Med 2006; 11:2-4.
-
(2006)
Evid Based Med
, vol.11
, pp. 2-4
-
-
Guyatt, G.1
Vist, G.2
Falck-Ytter, Y.3
Kunz, R.4
Magrini, N.5
Schunemann, H.6
-
10
-
-
43049113533
-
GRADE: An emerging consensus on rating quality of evidence and strength of recommendations
-
Guyatt GH, Oxman AD, Vist GE, Kunz R, Falck-Ytter Y, Alonso-Coello P, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ 2008; 336:924-6.
-
(2008)
BMJ
, vol.336
, pp. 924-926
-
-
Guyatt, G.H.1
Oxman, A.D.2
Vist, G.E.3
Kunz, R.4
Falck-Ytter, Y.5
Alonso-Coello, P.6
-
11
-
-
79951944676
-
GRADE guidelines: A new series of articles in the Journal of Clinical Epidemiology
-
Guyatt GH, Oxman AD, Schünemann HJ, Tugwell P, Knottnerus A. GRADE guidelines: a new series of articles in the Journal of Clinical Epidemiology. J Clin Epidemiol 2011; 64:380-2.
-
(2011)
J Clin Epidemiol
, vol.64
, pp. 380-382
-
-
Guyatt, G.H.1
Oxman, A.D.2
Schünemann, H.J.3
Tugwell, P.4
Knottnerus, A.5
-
12
-
-
79951955198
-
GRADE guidelines: 3. Rating the quality of evidence
-
Balshem H, Helfand M, Schünemann HJ, Oxman AD, Kunz R, Brozek J, et al. GRADE guidelines: 3. Rating the quality of evidence. J Clin Epidemiol 2011; 64:401-6.
-
(2011)
J Clin Epidemiol
, vol.64
, pp. 401-406
-
-
Balshem, H.1
Helfand, M.2
Schünemann, H.J.3
Oxman, A.D.4
Kunz, R.5
Brozek, J.6
-
13
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006; 8:465-73.
-
(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
-
-
33846899175
-
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 2007; 90:329-37.
-
(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
-
15
-
-
71649090838
-
Japan Elaprase Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)
-
Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, 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 2010; 99:18-25.
-
(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
-
16
-
-
79951578486
-
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
-
Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 2011; 13:95-101.
-
(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
-
17
-
-
84876092434
-
Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
-
Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA, et al. Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J Inherit Metab Dis 2013; 36;227-34.
-
(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
-
19
-
-
0021666221
-
Procedures for comparing samples with multiple endpoints
-
O'Brien PC. Procedures for comparing samples with multiple endpoints. Biometrics 1984; 40:1079-87.
-
(1984)
Biometrics
, vol.40
, pp. 1079-1087
-
-
O'Brien, P.C.1
-
20
-
-
79961030655
-
Critical interpretation of Cochran's Q test depends on power and prior assumptions about heterogeneity
-
Pereira TV, Patsopoulos NA, Salanti G, Ioannidis J. Critical interpretation of Cochran's Q test depends on power and prior assumptions about heterogeneity. Res Synth Methods 2010; 1:149-61.
-
(2010)
Res Synth Methods
, vol.1
, pp. 149-161
-
-
Pereira, T.V.1
Patsopoulos, N.A.2
Salanti, G.3
Ioannidis, J.4
-
21
-
-
70349555987
-
2000 CDC growth charts for the United States: Methods and development
-
Kuczmarski RJ, Ogden CL, Guo SS, Grummer-Strawn LM, Flegal KM, Mei Z, et al. 2000 CDC growth charts for the United States: methods and development. Vital Health Stat 11 2002; (246):1-190.
-
(2002)
Vital Health Stat
, vol.11
, Issue.246
, pp. 1-190
-
-
Kuczmarski, R.J.1
Ogden, C.L.2
Guo, S.S.3
Grummer-Strawn, L.M.4
Flegal, K.M.5
Mei, Z.6
-
22
-
-
0036644465
-
American Thoracic Society statement: Guidelines for the six-minute walk test
-
American Thoracic Society Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories
-
American Thoracic Society Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. American Thoracic Society statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 2002; 166:111-7.
-
(2002)
Am J Respir Crit Care Med
, vol.166
, pp. 111-117
-
-
-
23
-
-
0026038935
-
Lung function testing: Selection of reference values and interpretative strategies
-
American Thoracic Society
-
American Thoracic Society. Lung function testing: selection of reference values and interpretative strategies. Am Rev Respir Dis 1991; 144:1202-18.
-
(1991)
Am Rev Respir Dis
, vol.144
, pp. 1202-1218
-
-
-
24
-
-
24644496531
-
Interpretative strategies for lung function tests
-
Pellegrino R, Viegi G, Brusasco V, Crapo RO, Burgos F, Casaburi R, et al. Interpretative strategies for lung function tests. Eur Respir J 2005; 26:948-68.
-
(2005)
Eur Respir J
, vol.26
, pp. 948-968
-
-
Pellegrino, R.1
Viegi, G.2
Brusasco, V.3
Crapo, R.O.4
Burgos, F.5
Casaburi, R.6
-
25
-
-
16844379992
-
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): A phase I/II study
-
Harmatz P, Kramer WG, Hopwood JJ, Simon J, Butensky E, Swiedler SJ, et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl 2005; 94:61-8.
-
(2005)
Acta Paediatr
, vol.94
, Issue.SUPPL.
, pp. 61-68
-
-
Harmatz, P.1
Kramer, W.G.2
Hopwood, J.J.3
Simon, J.4
Butensky, E.5
Swiedler, S.J.6
-
26
-
-
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 EL, Miranda MC, 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 2006; 148:533-9.
-
(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
-
27
-
-
0032417009
-
Glycosaminoglycan accumulation and excretion in the mucopolysaccharidosis: Characterization and basis of diagnostic test for MPS
-
Byers S, Rozaklis T, Brumfield KL, Ranieri E, Hopwood J. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidosis: characterization and basis of diagnostic test for MPS. Mol Genet Metab 1998; 65:285-90.
-
(1998)
Mol Genet Metab
, vol.65
, pp. 285-290
-
-
Byers, S.1
Rozaklis, T.2
Brumfield, K.L.3
Ranieri, E.4
Hopwood, J.5
-
28
-
-
0034633090
-
Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses
-
Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martínez SE, Zúñiga-González GM, Figuera LE, González-Noriega A, et al. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch Med Res 2000; 31:505-10.
-
(2000)
Arch Med Res
, vol.31
, pp. 505-510
-
-
Gallegos-Arreola, M.P.1
McHorro-Lazo, M.V.2
Flores-Martínez, S.E.3
Zúñiga-González, G.M.4
Figuera, L.E.5
González-Noriega, A.6
-
29
-
-
2942514519
-
Evalulation of reliability of urine mucopolysaccaridosis screening by dimethylmethylene blue and berry spot tests
-
Mabe P, Valiente A, Soto V, Cornejo V, Raimann E. Evalulation of reliability of urine mucopolysaccaridosis screening by dimethylmethylene blue and berry spot tests. Clin Chim Acta 2004; 345:135-40.
-
(2004)
Clin Chim Acta
, vol.345
, pp. 135-140
-
-
Mabe, P.1
Valiente, A.2
Soto, V.3
Cornejo, V.4
Raimann, E.5
-
30
-
-
79959785835
-
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: The relevance of clinical trial end points
-
Glamuzina E, Fettes E, Bainbridge K, Crook V, Finnegan N, Abulhoul L, et al. Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. J Inherit Metab Dis 2011; 34:749-54.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 749-754
-
-
Glamuzina, E.1
Fettes, E.2
Bainbridge, K.3
Crook, V.4
Finnegan, N.5
Abulhoul, L.6
-
31
-
-
84868272640
-
The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: A longitudinal cohort study of people with lysosomal storage disorders
-
Wyatt K, Henley W, Anderson L, Anderson R, Nikolaou V, Stein K, et al. The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess 2012; 16:1-543.
-
(2012)
Health Technol Assess
, vol.16
, pp. 1-543
-
-
Wyatt, K.1
Henley, W.2
Anderson, L.3
Anderson, R.4
Nikolaou, V.5
Stein, K.6
-
32
-
-
64549141555
-
Bone marrow transplantation in children with Hunter syndrome: Outcome after 7 to 17 years
-
Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr 2009; 154:733-7.
-
(2009)
J Pediatr
, vol.154
, pp. 733-737
-
-
Guffon, N.1
Bertrand, Y.2
Forest, I.3
Fouilhoux, A.4
Froissart, R.5
|