-
1
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011-1017
-
(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
Kohlschutter, A.7
Kampmann, C.8
Beck, M.9
-
2
-
-
0021669617
-
Disc oedema in association with Hunter's syndrome: Ocular histopathological findings
-
Beck M, Cole G (1984) Disc oedema in association with Hunter's syndrome: ocular histopathological findings. Br J Ophthalmol 68:590-594
-
(1984)
Br J Ophthalmol
, vol.68
, pp. 590-594
-
-
Beck, M.1
Cole, G.2
-
3
-
-
0028926890
-
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
-
Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tonnesen T, Carlberg BM, Pettersson U (1995) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4:615-621
-
(1995)
Hum Mol Genet
, vol.4
, pp. 615-621
-
-
Bondeson, M.L.1
Dahl, N.2
Malmgren, H.3
Kleijer, W.J.4
Tonnesen, T.5
Carlberg, B.M.6
Pettersson, U.7
-
5
-
-
33645145491
-
Large animal models and gene therapy
-
Casal M, Haskins M (2006) Large animal models and gene therapy. Eur J Hum Genet 14:266-272
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 266-272
-
-
Casal, M.1
Haskins, M.2
-
6
-
-
0028899004
-
The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
-
Cleary MA, Wraith JE (1995) The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr 84:337-339
-
(1995)
Acta Paediatr
, vol.84
, pp. 337-339
-
-
Cleary, M.A.1
Wraith, J.E.2
-
7
-
-
0025789001
-
First-trimester diagnosis of Hunter syndrome: Very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus
-
Cooper A, Thornley M, Wraith JE (1991) First-trimester diagnosis of Hunter syndrome: very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus. Prenat Diagn 11:731-735
-
(1991)
Prenat Diagn
, vol.11
, pp. 731-735
-
-
Cooper, A.1
Thornley, M.2
Wraith, J.E.3
-
8
-
-
37549039029
-
Follow-up of patients with Hunter syndrome: The Hunter Outcome Survey (HOS) registry
-
(in Spanish).
-
Del Toro-Riera M (2007) Follow-up of patients with Hunter syndrome: the Hunter Outcome Survey (HOS) registry (in Spanish). Rev Neurol 44(Suppl 1):S13-17
-
(2007)
Rev Neurol
, vol.44
, Issue.SUPPL. 1
-
-
Del Toro-Riera, M.1
-
9
-
-
0015472706
-
A case of the Hunter syndrome with progeny
-
DiFerrante N, Nichols BL (1972) A case of the Hunter syndrome with progeny. Johns Hopkins Med J 130:325-328
-
(1972)
Johns Hopkins Med J
, vol.130
, pp. 325-328
-
-
Diferrante, N.1
Nichols, B.L.2
-
10
-
-
0014804905
-
Ultrastructure of the rectal wall in Hunter's syndrome
-
Elsner B (1970) Ultrastructure of the rectal wall in Hunter's syndrome. Gastroenterology 58:856-862
-
(1970)
Gastroenterology
, vol.58
, pp. 856-862
-
-
Elsner, B.1
-
11
-
-
27944473627
-
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts
-
Friso A, Tomanin R, Alba S, Gasparotto N, Puicher EP, Fusco M, Hortelano G, Muenzer J, Marin O, Zacchello F, Scarpa M (2005) Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J Gene Med 7:1482-1491
-
(2005)
J Gene Med
, vol.7
, pp. 1482-1491
-
-
Friso, A.1
Tomanin, R.2
Alba, S.3
Gasparotto, N.4
Puicher, E.P.5
Fusco, M.6
Hortelano, G.7
Muenzer, J.8
Marin, O.9
Zacchello, F.10
Scarpa, M.11
-
12
-
-
0031801567
-
Failure to control the airway in a patient with Hunter's syndrome
-
Gaitini L, Fradis M, Vaida S, Collins G, Croitoru M, Somri M, Borochovitz Z, Golz A (1998) Failure to control the airway in a patient with Hunter's syndrome. J Laryngol Otol 112:380-382
-
(1998)
J Laryngol Otol
, vol.112
, pp. 380-382
-
-
Gaitini, L.1
Fradis, M.2
Vaida, S.3
Collins, G.4
Croitoru, M.5
Somri, M.6
Borochovitz, Z.7
Golz, A.8
-
13
-
-
0030831327
-
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses
-
Haddad FS, Jones DH, Vellodi A, Kane N, Pitt MC (1997) Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br 79:576-582
-
(1997)
J Bone Joint Surg Br
, vol.79
, pp. 576-582
-
-
Haddad, F.S.1
Jones, D.H.2
Vellodi, A.3
Kane, N.4
Pitt, M.C.5
-
14
-
-
0033913816
-
Sudden death in Hunter syndrome caused by complete atrioventricular block
-
Hishitani T, Wakita S, Isoda T, Katori T, Ishizawa A, Okada R (2000) Sudden death in Hunter syndrome caused by complete atrioventricular block. J Pediatr 136:268-269
-
(2000)
J Pediatr
, vol.136
, pp. 268-269
-
-
Hishitani, T.1
Wakita, S.2
Isoda, T.3
Katori, T.4
Ishizawa, A.5
Okada, R.6
-
15
-
-
0000013140
-
A rare disease in two brothers
-
Hunter C (1917) A rare disease in two brothers. Proc R Soc Med 10:104-106
-
(1917)
Proc R Soc Med
, vol.10
, pp. 104-106
-
-
Hunter, C.1
-
16
-
-
0035957875
-
Disordered breathing during sleep in patients with mucopolysaccharidoses
-
Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R (2001) Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 58:127-138
-
(2001)
Int J Pediatr Otorhinolaryngol
, vol.58
, pp. 127-138
-
-
Leighton, S.E.1
Papsin, B.2
Vellodi, A.3
Dinwiddie, R.4
Lane, R.5
-
18
-
-
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 (2007) A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 90:329-337
-
(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
-
19
-
-
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, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Puga AC, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Kimura A (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465-473
-
(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
Vellodi, A.7
Martin, R.8
Ramaswami, U.9
Gucsavas-Calikoglu, M.10
Vijayaraghavan, S.11
Wendt, S.12
Puga, A.C.13
Ulbrich, B.14
Shinawi, M.15
Cleary, M.16
Piper, D.17
Conway, A.M.18
Kimura, A.19
-
20
-
-
0029950029
-
Bilateral epiretinal membranes: A new finding in Hunter syndrome
-
Narita AS, Russell-Eggitt I (1996) Bilateral epiretinal membranes: a new finding in Hunter syndrome. Ophthalmic Genet 17:75-78
-
(1996)
Ophthalmic Genet
, vol.17
, pp. 75-78
-
-
Narita, A.S.1
Russell-Eggitt, I.2
-
21
-
-
22644441772
-
Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II)
-
Parsons VJ, Hughes DG, Wraith JE (1996) Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 51:719-723
-
(1996)
Clin Radiol
, vol.51
, pp. 719-723
-
-
Parsons, V.J.1
Hughes, D.G.2
Wraith, J.E.3
-
22
-
-
0021618174
-
Hearing loss in Hunter's syndrome - Mucopolysaccharidosis II
-
Peck JE (1984) Hearing loss in Hunter's syndrome - mucopolysaccharidosis II. Ear Hear 5:243-246
-
(1984)
Ear Hear
, vol.5
, pp. 243-246
-
-
Peck, J.E.1
-
23
-
-
0032780351
-
The frequency of lysosomal storage diseases in the Netherlands
-
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.4
De Jong, J.G.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
24
-
-
0036435467
-
Cardiac structural involvement in mucopolysaccharidoses
-
Rigante D, Segni G (2002) Cardiac structural involvement in mucopolysaccharidoses. Cardiology 98:18-20
-
(2002)
Cardiology
, vol.98
, pp. 18-20
-
-
Rigante, D.1
Segni, G.2
-
25
-
-
0031733639
-
Extensive Mongolian spots associated with Hunter syndrome
-
Sapadin AN, Friedman IS (1998) Extensive Mongolian spots associated with Hunter syndrome. J Am Acad Dermatol 39:1013-1015
-
(1998)
J Am Acad Dermatol
, vol.39
, pp. 1013-1015
-
-
Sapadin, A.N.1
Friedman, I.S.2
-
26
-
-
0023107628
-
Hunter's syndrome: A study in airway obstruction
-
Sasaki CT, Ruiz R, Gaito R, Jr., Kirchner JA, Seshi B (1987) Hunter's syndrome: a study in airway obstruction. Laryngoscope 97:280-285
-
(1987)
Laryngoscope
, vol.97
, pp. 280-285
-
-
Sasaki, C.T.1
Ruiz, R.2
Gaito Jr., R.3
Kirchner, J.A.4
Seshi, B.5
-
27
-
-
0030013096
-
MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome)
-
Shinomiya N, Nagayama T, Fujioka Y, Aoki T (1996) MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 38:483-485
-
(1996)
Neuroradiology
, vol.38
, pp. 483-485
-
-
Shinomiya, N.1
Nagayama, T.2
Fujioka, Y.3
Aoki, T.4
-
28
-
-
0030633019
-
New perspectives in type 2 Gaucher disease
-
Sidransky E (1997) New perspectives in type 2 Gaucher disease. Adv Pediatr 44:73-107
-
(1997)
Adv Pediatr
, vol.44
, pp. 73-107
-
-
Sidransky, E.1
-
29
-
-
17844390101
-
Otorhinolaryngological manifestations of the mucopolysaccharidoses
-
Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP (2005) Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 69:589-595
-
(2005)
Int J Pediatr Otorhinolaryngol
, vol.69
, pp. 589-595
-
-
Simmons, M.A.1
Bruce, I.A.2
Penney, S.3
Wraith, E.4
Rothera, M.P.5
-
30
-
-
4143134061
-
Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII
-
Sleeper MM, Fornasari B, Ellinwood NM, Weil MA, Melniczek J, O'Malley TM, Sammarco CD, Xu L, Ponder KP, Haskins ME (2004) Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. Circulation 110:815-820
-
(2004)
Circulation
, vol.110
, pp. 815-820
-
-
Sleeper, M.M.1
Fornasari, B.2
Ellinwood, N.M.3
Weil, M.A.4
Melniczek, J.5
O'Malley, T.M.6
Sammarco, C.D.7
Xu, L.8
Ponder, K.P.9
Haskins, M.E.10
-
31
-
-
0018115566
-
Mucolipidosis I, the cherry red-spot-myoclonus syndrome and neuraminidase deficiency
-
Spranger J, Cantz M (1978) Mucolipidosis I, the cherry red-spot-myoclonus syndrome and neuraminidase deficiency. Birth Defects Orig Artic Ser 14:105-112
-
(1978)
Birth Defects Orig Artic Ser
, vol.14
, pp. 105-112
-
-
Spranger, J.1
Cantz, M.2
-
32
-
-
0031667720
-
Pebbling of the skin: A marker of Hunter's syndrome
-
Thappa DM, Singh A, Jaisankar TJ, Rao R, Ratnakar C (1998) Pebbling of the skin: a marker of Hunter's syndrome. Pediatr Dermatol 15:370-373
-
(1998)
Pediatr Dermatol
, vol.15
, pp. 370-373
-
-
Thappa, D.M.1
Singh, A.2
Jaisankar, T.J.3
Rao, R.4
Ratnakar, C.5
-
33
-
-
0031044151
-
Molecular and phenotypic variation in patients with severe Hunter syndrome
-
Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA (1997) Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 6:479-486
-
(1997)
Hum Mol Genet
, vol.6
, pp. 479-486
-
-
Timms, K.M.1
Bondeson, M.L.2
Ansari-Lari, M.A.3
Lagerstedt, K.4
Muzny, D.M.5
Dugan-Rocha, S.P.6
Nelson, D.L.7
Pettersson, U.8
Gibbs, R.A.9
-
34
-
-
0029165961
-
130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus
-
Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL, Gibbs RA (1995) 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 5:71-78
-
(1995)
Genome Res
, vol.5
, pp. 71-78
-
-
Timms, K.M.1
Lu, F.2
Shen, Y.3
Pierson, C.A.4
Muzny, D.M.5
Gu, Y.6
Nelson, D.L.7
Gibbs, R.A.8
-
35
-
-
15744375829
-
Mucopolysaccharidosis type II in females: Case report and review of literature
-
Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA (2005) Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol 32:270-272
-
(2005)
Pediatr Neurol
, vol.32
, pp. 270-272
-
-
Tuschl, K.1
Gal, A.2
Paschke, E.3
Kircher, S.4
Bodamer, O.A.5
-
36
-
-
0032998144
-
Long-term follow-up following bone marrow transplantation for Hunter disease
-
Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE (1999) Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 22:638-648
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 638-648
-
-
Vellodi, A.1
Young, E.2
Cooper, A.3
Lidchi, V.4
Winchester, B.5
Wraith, J.E.6
-
37
-
-
0022503146
-
Uveal effusion in Hunter's syndrome. Evidence that abnormal sclera is responsible for the uveal effusion syndrome
-
Vine AK (1986) Uveal effusion in Hunter's syndrome. Evidence that abnormal sclera is responsible for the uveal effusion syndrome. Retina 6:57-60
-
(1986)
Retina
, vol.6
, pp. 57-60
-
-
Vine, A.K.1
-
38
-
-
0025738553
-
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II-Hunter syndrome)
-
Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ (1991) The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II-Hunter syndrome). Hum Genet 87:205-206
-
(1991)
Hum Genet
, vol.87
, pp. 205-206
-
-
Wraith, J.E.1
Cooper, A.2
Thornley, M.3
Wilson, P.J.4
Nelson, P.V.5
Morris, C.P.6
Hopwood, J.J.7
-
39
-
-
0032504711
-
Acute airway obstruction in Hunter syndrome
-
Yoskovitch A, Tewfik TL, Brouillette RT, Schloss MD, Der Kaloustian VM (1998) Acute airway obstruction in Hunter syndrome. Int J Pediatr Otorhinolaryngol 44:273-278
-
(1998)
Int J Pediatr Otorhinolaryngol
, vol.44
, pp. 273-278
-
-
Yoskovitch, A.1
Tewfik, T.L.2
Brouillette, R.T.3
Schloss, M.D.4
Der Kaloustian, V.M.5
-
40
-
-
0019778834
-
Psychosocial problems in Hunter's syndrome
-
Young ID, Harper PS (1981) Psychosocial problems in Hunter's syndrome. Child Care Health Dev 7:201-209
-
(1981)
Child Care Health Dev
, vol.7
, pp. 201-209
-
-
Young, I.D.1
Harper, P.S.2
|