-
2
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
P.J. Meikle, J.J. Hopwood, A.E. Clague, and W.F. Carey Prevalence of lysosomal storage disorders JAMA 281 1999 249 254 (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
3
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
DOI 10.1007/s10545-005-0112-z
-
F. Baehner, C. Schmiedeskamp, F. Krummenauer, E. Miebach, M. Bajbouj, and C. Whybra Cumulative incidence rates of the mucopolysaccharidoses in Germany J Inherit Metab Dis 28 2005 1011 1017 (Pubitemid 43168938)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.6
, pp. 1011-1017
-
-
Baehner, F.1
Schmiedeskamp, C.2
Krummenauer, F.3
Miebach, E.4
Bajbouj, M.5
Whybra, C.6
Kohlschutter, A.7
Kampmann, C.8
Beck, M.9
-
4
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
DOI 10.1007/s004399900075
-
B.J. Poorthuis, R.A. Wevers, W.J. Kleijer, J.E. Groener, J.G. de Jong, and S. van Weely The frequency of lysosomal storage diseases in The Netherlands Hum Genet 105 1999 151 156 (Pubitemid 29396979)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.M.4
De Jong, J.G.N.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
6
-
-
0020613358
-
The natural history of the severe form of Hunter's syndrome: A study based on 52 cases
-
I.D. Young, and P.S. Harper The natural history of the severe form of Hunter's syndrome: a study based on 52 cases Dev Med Child Neurol 25 1983 481 489 (Pubitemid 13030892)
-
(1983)
Developmental Medicine and Child Neurology
, vol.25
, Issue.4
, pp. 481-489
-
-
Young, I.D.1
Harper, P.S.2
-
7
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
-
R. Martin, M. Beck, C. Eng, R. Giugliani, P. Harmatz, and V. Munoz Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome) Pediatrics 121 2008 e377 e386
-
(2008)
Pediatrics
, vol.121
-
-
Martin, R.1
Beck, M.2
Eng, C.3
Giugliani, R.4
Harmatz, P.5
Munoz, V.6
-
8
-
-
0020414447
-
Mild form of Hunter's syndrome: Clinical delineation based on 31 cases
-
I.D. Young, and P.S. Harper Mild form of Hunter's syndrome: clinical delineation based on 31 cases Arch Dis Child 57 1982 828 836 (Pubitemid 13238787)
-
(1982)
Archives of Disease in Childhood
, vol.57
, Issue.11
, pp. 828-836
-
-
Young, I.D.1
Harper, P.S.2
-
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, and R. Giugliani 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
-
-
33947590635
-
A clinical study of 77 patients with mucopolysaccharidosis type II
-
DOI 10.1111/j.1651-2227.2007.00212.x
-
I.V. Schwartz, M.G. Ribeiro, J.G. Mota, M.B. Toralles, P. Correia, and D. Horovitz A clinical study of 77 patients with mucopolysaccharidosis type II Acta Paediatr Suppl 96 2007 63 70 (Pubitemid 46481122)
-
(2007)
Acta Paediatrica, International Journal of Paediatrics
, vol.96
, Issue.SUPPL. 455
, pp. 63-70
-
-
Schwartz, I.V.D.1
Ribeiro, M.G.2
Mota, J.G.3
Toralles, M.B.P.4
Correia, P.5
Horovitz, D.6
Santos, E.S.7
Monlleo, I.L.8
Fett-Conte, A.C.9
Sobrinho, R.P.O.10
Norato, D.Y.11
Paula, A.C.12
Kim, C.A.13
Duarte, A.R.14
Boy, R.15
Valadares, E.16
De Michelena, M.17
Mabe, P.18
Martinhago, C.D.19
Pina-Neto, J.M.20
Kok, F.21
Leistner-Segal, S.22
Burin, M.G.23
Giugliani, R.24
more..
-
11
-
-
52049124506
-
Initial report from the Hunter Outcome Survey (HOS)
-
J.E. Wraith, M. Beck, R. Giugliani, J. Clarke, R. Martin, and J. Muenzer Initial report from the Hunter Outcome Survey (HOS) Genet Med 10 2008 508 516
-
(2008)
Genet Med
, vol.10
, pp. 508-516
-
-
Wraith, J.E.1
Beck, M.2
Giugliani, R.3
Clarke, J.4
Martin, R.5
Muenzer, J.6
-
12
-
-
0024723470
-
Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms
-
N.B. Schiller, P.M. Shah, M. Crawford, A. DeMaria, R. Devereux, and H. Feigenbaum Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms J Am Soc Echocardiogr 2 1989 358 367
-
(1989)
J Am Soc Echocardiogr
, vol.2
, pp. 358-367
-
-
Schiller, N.B.1
Shah, P.M.2
Crawford, M.3
Demaria, A.4
Devereux, R.5
Feigenbaum, H.6
-
13
-
-
0023294565
-
Detection of left ventricular hypertrophy by M-mode echocardiography. Anatomic validation, standardization, and comparison to other methods
-
R.B. Devereux Detection of left ventricular hypertrophy by M-mode echocardiography. Anatomic validation, standardization, and comparison to other methods Hypertension 9 2 Pt 2 1987 II19 II26
-
(1987)
Hypertension
, vol.9
, Issue.2 PART 2
-
-
Devereux, R.B.1
-
14
-
-
0142008980
-
Recommendations for Evaluation of the Severity of Native Valvular Regurgitation with Two-dimensional and Doppler Echocardiography
-
DOI 10.1016/S0894-7317(03)00335-3
-
W.A. Zoghbi, M. Enriquez-Sarano, E. Foster, P.A. Grayburn, C.D. Kraft, and R.A. Levine Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and Doppler echocardiography J Am Soc Echocardiogr 16 2003 777 802 (Pubitemid 37391035)
-
(2003)
Journal of the American Society of Echocardiography
, vol.16
, Issue.7
, pp. 777-802
-
-
Zoghbi, W.A.1
Enriquez-Sarano, M.2
Foster, E.3
Grayburn, P.A.4
Kraft, C.D.5
Levine, R.A.6
Nihoyannopoulos, P.7
Otto, C.M.8
Quinones, M.A.9
Rakowski, H.10
Stewart, W.J.11
Waggoner, A.12
Weissman, N.J.13
-
15
-
-
3442901072
-
The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents
-
National High Blood Pressure Education Program
-
National High Blood Pressure Education Program The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents Pediatrics 114 2 Suppl. 4th Report 2004 555 576
-
(2004)
Pediatrics
, vol.114
, Issue.2 SUPPL.
, pp. 555-576
-
-
-
16
-
-
0034931553
-
New normal limits for the paediatric electrocardiogram
-
DOI 10.1053/euhj.2000.2399
-
P.R. Rijnbeek, M. Witsenburg, E. Schrama, J. Hess, and J.A. Kors New normal limits for the paediatric electrocardiogram Eur Heart J 22 2001 702 711 (Pubitemid 32622431)
-
(2001)
European Heart Journal
, vol.22
, Issue.8
, pp. 702-711
-
-
Rijnbeek, P.R.1
Witsenburg, M.2
Schrama, E.3
Hess, J.4
Kors, J.A.5
-
17
-
-
0038460302
-
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: The JNC 7 Report
-
A.V. Chobanian, G.L. Bakris, H.R. Black, W.C. Cushman, L.A. Green, and J.L. Izzo Jr. The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: The JNC 7 Report JAMA 289 2003 2560 2571
-
(2003)
JAMA
, vol.289
, pp. 2560-2571
-
-
Chobanian, A.V.1
Bakris, G.L.2
Black, H.R.3
Cushman, W.C.4
Green, L.A.5
Izzo, Jr.J.L.6
-
18
-
-
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, and C.M. Eng 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
-
19
-
-
0031834476
-
Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders- clinical and echocardiographic findings in 64 patients
-
DOI 10.1007/s004310050872
-
J.H. Dangel Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and echocardiographic findings in 64 patients Eur J Pediatr 157 1998 534 538 (Pubitemid 28311476)
-
(1998)
European Journal of Pediatrics
, vol.157
, Issue.7
, pp. 534-538
-
-
Dangel, J.H.1
-
20
-
-
0026531228
-
The prevalence of valvular regurgitation in children with structurally normal hearts: A color Doppler echocardiographic study
-
A. Brand, S. Dollberg, and A. Keren The prevalence of valvular regurgitation in children with structurally normal hearts: a color Doppler echocardiographic study Am Heart J 123 1992 177 180
-
(1992)
Am Heart J
, vol.123
, pp. 177-180
-
-
Brand, A.1
Dollberg, S.2
Keren, A.3
-
21
-
-
71949110878
-
Multidisciplinary management of Hunter syndrome
-
J. Muenzer, M. Beck, C.M. Eng, M.L. Escolar, R. Giugliani, and N.H. Guffon-Fouilhoux Multidisciplinary management of Hunter syndrome Pediatrics 124 2009 e1228 e1239
-
(2009)
Pediatrics
, vol.124
-
-
Muenzer, J.1
Beck, M.2
Eng, C.M.3
Escolar, M.L.4
Giugliani, R.5
Guffon-Fouilhoux, N.H.6
|