-
1
-
-
67349262798
-
Characterization of surgical procedures in patients with mucopolysaccharidosis type I: Findings from the MPS i Registry
-
10.1016/j.jpeds.2008.12.024 19217123 e853
-
P Arn JE Wraith L Underhill 2009 Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry J Pediatr 154 6 859 864 10.1016/j.jpeds.2008.12.024 19217123 e853
-
(2009)
J Pediatr
, vol.154
, Issue.6
, pp. 859-864
-
-
Arn, P.1
Wraith, J.E.2
Underhill, L.3
-
2
-
-
33745943855
-
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type i
-
10.1016/j.amjcard.2006.02.047 1:CAS:528:DC%2BD28XntVWjtrw%3D 16860035
-
EA Braunlin JM Berry CB Whitley 2006 Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I Am J Cardiol 98 3 416 418 10.1016/j.amjcard.2006.02.047 1:CAS:528:DC%2BD28XntVWjtrw%3D 16860035
-
(2006)
Am J Cardiol
, vol.98
, Issue.3
, pp. 416-418
-
-
Braunlin, E.A.1
Berry, J.M.2
Whitley, C.B.3
-
3
-
-
33744810067
-
Attenuated type i mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: A series of 13 patients with Scheie syndrome
-
1:STN:280:DC%2BD28zltVelsQ%3D%3D 16762159
-
R Cimaz S Vijay C Haase, et al. 2006 Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome Clin Exp Rheumatol 24 2 196 202 1:STN:280:DC%2BD28zltVelsQ%3D%3D 16762159
-
(2006)
Clin Exp Rheumatol
, vol.24
, Issue.2
, pp. 196-202
-
-
Cimaz, R.1
Vijay, S.2
Haase, C.3
-
4
-
-
59449083175
-
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis i
-
10.1542/peds.2007-3847 19117887
-
LA Clarke JE Wraith M Beck, et al. 2009 Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I Pediatrics 123 1 229 240 10.1542/peds.2007-3847 19117887
-
(2009)
Pediatrics
, vol.123
, Issue.1
, pp. 229-240
-
-
Clarke, L.A.1
Wraith, J.E.2
Beck, M.3
-
5
-
-
74049159044
-
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up
-
10.1542/peds.2009-1728 20026495
-
O Gabrielli LA Clarke S Bruni GV Coppa 2009 Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up Pediatrics 125 1 e183 e187 10.1542/peds.2009-1728 20026495
-
(2009)
Pediatrics
, vol.125
, Issue.1
-
-
Gabrielli, O.1
Clarke, L.A.2
Bruni, S.3
Coppa, G.V.4
-
6
-
-
57649092465
-
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis i
-
10.1016/j.ymgme.2008.10.009 1:CAS:528:DC%2BD1cXhsFajsrfI 19038563
-
R Giugliani VM Rojas AM Martins, et al. 2009 A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I Mol Genet Metab 96 1 13 19 10.1016/j.ymgme.2008.10.009 1:CAS:528:DC%2BD1cXhsFajsrfI 19038563
-
(2009)
Mol Genet Metab
, vol.96
, Issue.1
, pp. 13-19
-
-
Giugliani, R.1
Rojas, V.M.2
Martins, A.M.3
-
7
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis i
-
10.1056/NEJM200101183440304 1:CAS:528:DC%2BD3MXosleksw%3D%3D 11172140
-
ED Kakkis J Muenzer GE Tiller, et al. 2001 Enzyme-replacement therapy in mucopolysaccharidosis I N Engl J Med 344 3 182 188 10.1056/NEJM200101183440304 1:CAS:528:DC%2BD3MXosleksw%3D%3D 11172140
-
(2001)
N Engl J Med
, vol.344
, Issue.3
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
-
8
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
10.1001/jama.281.3.249 1:STN:280:DyaK1M7hsFSguw%3D%3D 9918480
-
PJ Meikle JJ Hopwood AE Clague WF Carey 1999 Prevalence of lysosomal storage disorders JAMA 281 3 249 254 10.1001/jama.281.3.249 1:STN:280: DyaK1M7hsFSguw%3D%3D 9918480
-
(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
-
9
-
-
59449100963
-
Mucopolysaccharidosis I: Management and treatment guidelines
-
10.1542/peds.2008-0416 19117856
-
J Muenzer JE Wraith LA Clarke 2009 Mucopolysaccharidosis I: management and treatment guidelines Pediatrics 123 1 19 29 10.1542/peds.2008-0416 19117856
-
(2009)
Pediatrics
, vol.123
, Issue.1
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.A.3
-
10
-
-
0000869162
-
The mucopolysaccharidoses
-
C. Scriver A. Beaudet W. Sly (eds) et al. 8 McGraw-Hill New York
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W et al (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421-3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
11
-
-
34047274124
-
The MPS i registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type i
-
10.1016/j.ymgme.2007.01.011 1:CAS:528:DC%2BD2sXkt1ehuro%3D 17336562
-
GM Pastores P Arn M Beck, et al. 2007 The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I Mol Genet Metab 91 1 37 47 10.1016/j.ymgme.2007.01.011 1:CAS:528:DC%2BD2sXkt1ehuro%3D 17336562
-
(2007)
Mol Genet Metab
, vol.91
, Issue.1
, pp. 37-47
-
-
Pastores, G.M.1
Arn, P.2
Beck, M.3
-
12
-
-
0001428039
-
A newly recognized forme fruste of Hurler's disease (gargoylism)
-
1:STN:280:DyaF38%2FpvFOhuw%3D%3D 14498144
-
HG Scheie GW Hambrick Jr LA Barness 1962 A newly recognized forme fruste of Hurler's disease (gargoylism) Am J Ophthalmol 53 753 769 1:STN:280: DyaF38%2FpvFOhuw%3D%3D 14498144
-
(1962)
Am J Ophthalmol
, vol.53
, pp. 753-769
-
-
Scheie, H.G.1
Hambrick Jr., G.W.2
Barness, L.A.3
-
13
-
-
0017228450
-
The iduronidase-deficient mucopolysaccharidoses: Clinical and roentgenorgraphic features
-
1:STN:280:DyaE287gtF2itw%3D%3D 813180
-
RE Stevenson RR Howell VA McKusick, et al. 1976 The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features Pediatrics 57 1 111 122 1:STN:280:DyaE287gtF2itw%3D%3D 813180
-
(1976)
Pediatrics
, vol.57
, Issue.1
, pp. 111-122
-
-
Stevenson, R.E.1
Howell, R.R.2
McKusick, V.A.3
-
14
-
-
47149102515
-
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
-
10.1002/ajmg.a.32320 18546277
-
T Vieira I Schwartz V Munoz, et al. 2008 Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Am J Med Genet A 146A 13 1741 1747 10.1002/ajmg.a.32320 18546277
-
(2008)
Am J Med Genet A
, vol.146
, Issue.13
, pp. 1741-1747
-
-
Vieira, T.1
Schwartz, I.2
Munoz, V.3
-
15
-
-
22944466392
-
Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type i
-
10.1080/08035250510031584 16188808
-
S Vijay JE Wraith 2005 Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I Acta Paediatr 94 7 872 877 10.1080/08035250510031584 16188808
-
(2005)
Acta Paediatr
, vol.94
, Issue.7
, pp. 872-877
-
-
Vijay, S.1
Wraith, J.E.2
-
16
-
-
17144399564
-
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis i
-
10.1517/14656566.6.3.489 1:CAS:528:DC%2BD2MXjvVyrtrk%3D 15794739
-
JE Wraith 2005 The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I Expert Opin Pharmacother 6 3 489 506 10.1517/14656566.6.3.489 1:CAS:528:DC%2BD2MXjvVyrtrk%3D 15794739
-
(2005)
Expert Opin Pharmacother
, vol.6
, Issue.3
, pp. 489-506
-
-
Wraith, J.E.1
-
17
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
10.1016/j.jpeds.2004.01.046 1:CAS:528:DC%2BD2cXjs1Wnsbg%3D 15126990
-
JE Wraith LA Clarke M Beck, et al. 2004 Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase) J Pediatr 144 5 581 588 10.1016/j.jpeds.2004.01.046 1:CAS:528:DC%2BD2cXjs1Wnsbg%3D 15126990
-
(2004)
J Pediatr
, vol.144
, Issue.5
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
|