-
1
-
-
0000869162
-
The Mucopolysaccharidoses
-
Scriver C, Beaudet A, Sly W, Valle D eds, McGraw-Hill, New York
-
Neufeld E, Muenzer J. The Mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 2001, pp 3421-3452.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.1
Muenzer, J.2
-
3
-
-
0019373959
-
Echocardiographic mitral valve deformity in the mucopolysaccharidoses
-
Johnson GL, Vine DL, Cottrill CM, Noonan JA. Echocardiographic mitral valve deformity in the mucopolysaccharidoses. Pediatrics 1981; 67: 401-406.
-
(1981)
Pediatrics
, vol.67
, pp. 401-406
-
-
Johnson, G.L.1
Vine, D.L.2
Cottrill, C.M.3
Noonan, J.A.4
-
4
-
-
0023760034
-
Echocardiographic abnormalities in the mucopolysaccharide storage diseases
-
Gross DM, Williams JC, Caprioli C, Dominguez B, Howell RR. Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol 1988; 61: 170-176.
-
(1988)
Am J Cardiol
, vol.61
, pp. 170-176
-
-
Gross, D.M.1
Williams, J.C.2
Caprioli, C.3
Dominguez, B.4
Howell, R.R.5
-
5
-
-
0025058103
-
Cardiovascular studies in the mucopolysaccharidoses
-
Nelson J, Shields MD, Mulholland HC. Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 1990; 27: 94-100.
-
(1990)
J Med Genet
, vol.27
, pp. 94-100
-
-
Nelson, J.1
Shields, M.D.2
Mulholland, H.C.3
-
6
-
-
0026017848
-
Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: Imaging findings
-
Taylor DB, Blaser SI, Burrows PE, Stringer DA, Clarke JTR, Thorner P. Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: Imaging findings. Am J Roentgenol 1991; 157: 819-823.
-
(1991)
Am J Roentgenol
, vol.157
, pp. 819-823
-
-
Taylor, D.B.1
Blaser, S.I.2
Burrows, P.E.3
Stringer, D.A.4
Clarke, J.T.R.5
Thorner, P.6
-
7
-
-
0026503284
-
Valvular heart disease in four patients with Maroteaux-Lamy syndrome
-
Tan CT, Schaff HV, Miller FA Jr, Edwards WD, Karnes PS. Valvular heart disease in four patients with Maroteaux-Lamy syndrome. Circulation 1992; 85: 188-195.
-
(1992)
Circulation
, vol.85
, pp. 188-195
-
-
Tan, C.T.1
Schaff, H.V.2
Miller Jr, F.A.3
Edwards, W.D.4
Karnes, P.S.5
-
8
-
-
0028889847
-
Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses
-
Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jungst BK. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr 1995; 154: 98-101.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 98-101
-
-
Wippermann, C.F.1
Beck, M.2
Schranz, D.3
Huth, R.4
Michel-Behnke, I.5
Jungst, B.K.6
-
9
-
-
0031834476
-
Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and echocardiographic findings in 64 patients
-
Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998; 157: 534-538.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 534-538
-
-
Dangel, J.H.1
-
10
-
-
0036345045
-
Cardiovascular changes in children with mucopolysaccharide disorders
-
Mohan UR, Hay AA, Cleary MA, Wrath JE, Patel RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 2002; 91: 799-804.
-
(2002)
Acta Paediatr
, vol.91
, pp. 799-804
-
-
Mohan, U.R.1
Hay, A.A.2
Cleary, M.A.3
Wrath, J.E.4
Patel, R.G.5
-
11
-
-
0036435467
-
Cardiac structural involvement in mucopolysaccharidoses
-
Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology 2002; 98: 18-20.
-
(2002)
Cardiology
, vol.98
, pp. 18-20
-
-
Rigante, D.1
Segni, G.2
-
12
-
-
0024544720
-
Hurler Syndrome with cardiomyopathy in infancy
-
Donaldson M, Pennock C, Berry P, Duncan A, Cawdery J, Leonard J. Hurler Syndrome with cardiomyopathy in infancy. J Pediatr 1989; 114: 430-432.
-
(1989)
J Pediatr
, vol.114
, pp. 430-432
-
-
Donaldson, M.1
Pennock, C.2
Berry, P.3
Duncan, A.4
Cawdery, J.5
Leonard, J.6
-
13
-
-
0026499956
-
Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI
-
Hayflick S, Rowe S, Kavanaugh-McHugh A, Olson JL, Valle D. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI. J Pediatr 1992; 120: 269-272.
-
(1992)
J Pediatr
, vol.120
, pp. 269-272
-
-
Hayflick, S.1
Rowe, S.2
Kavanaugh-McHugh, A.3
Olson, J.L.4
Valle, D.5
-
14
-
-
0025048920
-
Bone marrow transplantation in mucopolysaccharidosis type I, Hurler-Sheie variety. Metabolic correction and clinical results
-
Ortega AJ, Dominguez LC, Olive OT, et al. Bone marrow transplantation in mucopolysaccharidosis type I, Hurler-Sheie variety. Metabolic correction and clinical results. An Esp Pediatr 1990; 33: 369-375.
-
(1990)
An Esp Pediatr
, vol.33
, pp. 369-375
-
-
Ortega, A.J.1
Dominguez, L.C.2
Olive, O.T.3
-
15
-
-
0026511701
-
Hypetrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation
-
Viñallonga X, Sanz N, Balaguer A, Miro L, Ortega JJ, Casaldaliga J. Hypetrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation. Pediatr Cardiol 1992; 13: 107-109.
-
(1992)
Pediatr Cardiol
, vol.13
, pp. 107-109
-
-
Viñallonga, X.1
Sanz, N.2
Balaguer, A.3
Miro, L.4
Ortega, J.J.5
Casaldaliga, J.6
-
16
-
-
0029117050
-
Cardiac involvement in mucopolysaccharidoses: Effects of allogeneic bone marrow transplantation
-
Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: Effects of allogeneic bone marrow transplantation. Arch Dis Child 1995; 73: 259-260.
-
(1995)
Arch Dis Child
, vol.73
, pp. 259-260
-
-
Gatzoulis, M.A.1
Vellodi, A.2
Redington, A.N.3
-
17
-
-
0032988760
-
Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up
-
Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-term follow-up. J Inherit Metab Dis 1999; 22: 50-62.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 50-62
-
-
Herskhovitz, E.1
Young, E.2
Rainer, J.3
-
18
-
-
0035499168
-
Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome
-
Braunlin E, Rose A, Hopwood J, Candel R, Krivit W. Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2001; 88: 1075-1077.
-
(2001)
Am J Cardiol
, vol.88
, pp. 1075-1077
-
-
Braunlin, E.1
Rose, A.2
Hopwood, J.3
Candel, R.4
Krivit, W.5
-
19
-
-
0141459294
-
Usefulness of bone marrow transplantation in the Hurler syndrome
-
Braunlin EA, Stauffer NR, Peters CH, et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92: 882-886.
-
(2003)
Am J Cardiol
, vol.92
, pp. 882-886
-
-
Braunlin, E.A.1
Stauffer, N.R.2
Peters, C.H.3
-
20
-
-
0037295890
-
Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines
-
Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines. Bone Marrow Transplant 2003; 31: 229-239.
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 229-239
-
-
Peters, C.1
Steward, C.G.2
-
21
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581-588.
-
(2004)
J Pediatr
, vol.144
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
-
22
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis type II (Hunter syndrome)
-
Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis type II (Hunter syndrome). Genet Med 2006; 8: 465-473.
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
-
23
-
-
27744493202
-
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005; 115: 681-689.
-
(2005)
Pediatrics
, vol.115
, pp. 681-689
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
-
24
-
-
0019165493
-
Echocardiographic measurements in normal subjects from infancy to old age
-
Henry WL, Gardin JM, Ware JH. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980; 62: 1054-1061.
-
(1980)
Circulation
, vol.62
, pp. 1054-1061
-
-
Henry, W.L.1
Gardin, J.M.2
Ware, J.H.3
-
25
-
-
0022592983
-
Semiquantitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler flow imaging technique
-
Miatake K, Izumi S, Okamoto M, et al. Semiquantitative grading of severity of mitral regurgitation by real-time two-dimensional Doppler flow imaging technique. J Am Coll Cardiol 1986; 7: 82-88.
-
(1986)
J Am Coll Cardiol
, vol.7
, pp. 82-88
-
-
Miatake, K.1
Izumi, S.2
Okamoto, M.3
-
26
-
-
0024409404
-
Pulsed and continuous wave Doppler echocardiographic assessment of valvular regurgitation in normal subjects
-
Berger M, Hecht SR, Van Tosh A, Lingam U. Pulsed and continuous wave Doppler echocardiographic assessment of valvular regurgitation in normal subjects. J Am Coll Cardiol 1989; 13: 1540-1545.
-
(1989)
J Am Coll Cardiol
, vol.13
, pp. 1540-1545
-
-
Berger, M.1
Hecht, S.R.2
Van Tosh, A.3
Lingam, U.4
-
27
-
-
0017145225
-
The heart in the Hurler syndrome: Gross, histologic and ultrastructural observations in five necropsy cases
-
Renteria VG, Ferrans VJ, Roberts WC. The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol 1976; 38: 487-501.
-
(1976)
Am J Cardiol
, vol.38
, pp. 487-501
-
-
Renteria, V.G.1
Ferrans, V.J.2
Roberts, W.C.3
-
28
-
-
33745943855
-
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I
-
Braunlin EA, Berry JM, Whitley CB. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 2006; 98: 416-418.
-
(2006)
Am J Cardiol
, vol.98
, pp. 416-418
-
-
Braunlin, E.A.1
Berry, J.M.2
Whitley, C.B.3
-
29
-
-
17144399564
-
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
-
Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 2005; 6: 489-506.
-
(2005)
Expert Opin Pharmacother
, vol.6
, pp. 489-506
-
-
Wraith, J.E.1
|