-
2
-
-
0025170991
-
An update on the frequency of mucopolysaccharide syndromes in British Columbia
-
Lowry R.B., et al. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 86 (1990) 389-390
-
(1990)
Hum Genet
, vol.86
, pp. 389-390
-
-
Lowry, R.B.1
-
3
-
-
0032780351
-
The frequency of lysosomal storage disease in the Netherlands
-
Poorthuis B.J.H.M., et al. The frequency of lysosomal storage disease in the Netherlands. Hum Genet 105 (1999) 151-156
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
-
4
-
-
52949116848
-
The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie, and Scheie syndromes in the UK
-
[Epub ahead of print]
-
Moore D., Connock M.J., Wraith E., and Lavery C. The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie, and Scheie syndromes in the UK. Orphanet J Rare Dis 3 (2008) 24 [Epub ahead of print]
-
(2008)
Orphanet J Rare Dis
, vol.3
, pp. 24
-
-
Moore, D.1
Connock, M.J.2
Wraith, E.3
Lavery, C.4
-
5
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver C., Beaudet A., Sly W., et al. (Eds), McGraw Hill, New York
-
Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C., Beaudet A., Sly W., et al. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw Hill, New York 3421-3452
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
6
-
-
70249150886
-
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 607014, last edited: 10/6/2003. Available at: http://www.ncbi.nlm.nih.gov/omim.
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 607014, last edited: 10/6/2003. Available at: http://www.ncbi.nlm.nih.gov/omim.
-
-
-
-
7
-
-
0028916610
-
The mucopolysaccharidoses: a clinical review and guide to management
-
Wraith J.E. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 72 (1995) 263-267
-
(1995)
Arch Dis Child
, vol.72
, pp. 263-267
-
-
Wraith, J.E.1
-
8
-
-
70249119445
-
-
Martins AM, et al. Mucopolissacaridoses: Manual de Orientações. Avaliable at: http://www.unifesp.br/centros/creim/downloads/gz-mps-apostila-2003.pdf.
-
Martins AM, et al. Mucopolissacaridoses: Manual de Orientações. Avaliable at: http://www.unifesp.br/centros/creim/downloads/gz-mps-apostila-2003.pdf.
-
-
-
-
9
-
-
70249115317
-
MPS I management and treatment guidelines
-
Wraith J.E. MPS I management and treatment guidelines. Am J Hum Genet 73 (2003) 621
-
(2003)
Am J Hum Genet
, vol.73
, pp. 621
-
-
Wraith, J.E.1
-
10
-
-
0022243753
-
Airway obstruction and sleep apnea in Hurler and Hunter syndromes
-
Shapiro J., Strome M., and Croker A.C. Airway obstruction and sleep apnea in Hurler and Hunter syndromes. Ann Otol Rhinol Laryngol 94 (1985) 458-461
-
(1985)
Ann Otol Rhinol Laryngol
, vol.94
, pp. 458-461
-
-
Shapiro, J.1
Strome, M.2
Croker, A.C.3
-
11
-
-
0001652147
-
Obstructive sleep apnea syndrome in infants and children: diagnosis and management
-
Ferber R., and Kryger M. (Eds), W.B. Saunders Company, Philadelphia
-
Carroll J.L., and Loughlin G.M. Obstructive sleep apnea syndrome in infants and children: diagnosis and management. In: Ferber R., and Kryger M. (Eds). Principles and practice of sleep medicine in the child (1995), W.B. Saunders Company, Philadelphia 193-216
-
(1995)
Principles and practice of sleep medicine in the child
, pp. 193-216
-
-
Carroll, J.L.1
Loughlin, G.M.2
-
12
-
-
70249086064
-
-
Moreira GA., Pradella-Hallinan MC., Rueda AD, Barbisan BN, Tufik S. Nasal positive pressure for children with sleep disordered breathing. In: Latin American Sleep Congress, 8, Sao Paulo, 2000. Abstracts. Hypnos 2000;1:73.
-
Moreira GA., Pradella-Hallinan MC., Rueda AD, Barbisan BN, Tufik S. Nasal positive pressure for children with sleep disordered breathing. In: Latin American Sleep Congress, 8, Sao Paulo, 2000. Abstracts. Hypnos 2000;1:73.
-
-
-
-
13
-
-
0142025203
-
Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure
-
Chan D., Li A.M., Yam M.C., Li C.K., and Fok T.F. Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure. J Pediatric Child Health 39 (2003) 558-559
-
(2003)
J Pediatric Child Health
, vol.39
, pp. 558-559
-
-
Chan, D.1
Li, A.M.2
Yam, M.C.3
Li, C.K.4
Fok, T.F.5
-
14
-
-
0024595713
-
Indications and standards for cardiopulmonary sleep studies
-
American Thoracic Society. Indications and standards for cardiopulmonary sleep studies. Am Rev Respir Dis 139 (1989) 559-568
-
(1989)
Am Rev Respir Dis
, vol.139
, pp. 559-568
-
-
American Thoracic Society1
-
15
-
-
0032846973
-
Cardiorespiratory sleep studies in children. Establishment of normative data and polysomnographic predictors of morbidity
-
American Thoracic Society. Cardiorespiratory sleep studies in children. Establishment of normative data and polysomnographic predictors of morbidity. Am J Respir Crit Care Med 160 (1999) 1381-1387
-
(1999)
Am J Respir Crit Care Med
, vol.160
, pp. 1381-1387
-
-
American Thoracic Society1
-
16
-
-
0035402127
-
Sleep-disordered breathing in children
-
Marcus C.L. Sleep-disordered breathing in children. Am J Respir Crit Care Med 164 (2001) 16-30
-
(2001)
Am J Respir Crit Care Med
, vol.164
, pp. 16-30
-
-
Marcus, C.L.1
-
17
-
-
0032801928
-
Obstructive sleep apnea in infants and its management with nasal continuous positive airway pressure
-
Mcnamara F., and Sullivan C.E. Obstructive sleep apnea in infants and its management with nasal continuous positive airway pressure. Chest 116 (1999) 10-16
-
(1999)
Chest
, vol.116
, pp. 10-16
-
-
Mcnamara, F.1
Sullivan, C.E.2
-
18
-
-
70249134764
-
-
Moreira GA, Pradella-Hallinan MC, Barbisan BN, Tufik S. Sleep disorders in children with mucopolysaccharidosis. In: Associated Professionals Sleep Society Annual Meeting, 15, Chicago, June 17-22, 2001. Abstracts. Sleep, 2001;24(abstract suppl):A210.
-
Moreira GA, Pradella-Hallinan MC, Barbisan BN, Tufik S. Sleep disorders in children with mucopolysaccharidosis. In: Associated Professionals Sleep Society Annual Meeting, 15, Chicago, June 17-22, 2001. Abstracts. Sleep, 2001;24(abstract suppl):A210.
-
-
-
-
19
-
-
0029909750
-
Recognition of sleep-disordered breathing in children
-
Guilleminault C., Pelayo R., Leger D., Clerk A., and Bocian R.C. Recognition of sleep-disordered breathing in children. Pediatrics 98 (1996) 871-882
-
(1996)
Pediatrics
, vol.98
, pp. 871-882
-
-
Guilleminault, C.1
Pelayo, R.2
Leger, D.3
Clerk, A.4
Bocian, R.C.5
-
20
-
-
0025772297
-
Airway obstruction in Hurler's syndrome: radiographic features
-
Myer C.M. Airway obstruction in Hurler's syndrome: radiographic features. Int J Pediatr Otorhinolsryngol 22 (1991) 91-96
-
(1991)
Int J Pediatr Otorhinolsryngol
, vol.22
, pp. 91-96
-
-
Myer, C.M.1
-
21
-
-
70249107951
-
Methods of examination
-
Bluestone C.D., Stool S.E., and Kenna M.A. (Eds), W B Saunders Co, Philadelphia
-
Casselbrant M.L. Methods of examination. In: Bluestone C.D., Stool S.E., and Kenna M.A. (Eds). Pediatric otolaryngology. 3rd ed (1996), W B Saunders Co, Philadelphia
-
(1996)
Pediatric otolaryngology. 3rd ed
-
-
Casselbrant, M.L.1
-
22
-
-
0023795363
-
Respiratory complications of mucopolysaccharide storage disorders
-
Semenza G.L., and Pyeritz R.E. Respiratory complications of mucopolysaccharide storage disorders. Medicine 67 (1988) 209-219
-
(1988)
Medicine
, vol.67
, pp. 209-219
-
-
Semenza, G.L.1
Pyeritz, R.E.2
-
23
-
-
0026769768
-
Otolayngologic manifestations of the mucopolysaccharidoses
-
Bredenkamp J.K., Smith M.E., Dudley J.P., Williams J.C., Crumley R.L., and Crockett D.M. Otolayngologic manifestations of the mucopolysaccharidoses. Ann Otol Rhinol Layngol 101 (1992) 472-478
-
(1992)
Ann Otol Rhinol Layngol
, vol.101
, pp. 472-478
-
-
Bredenkamp, J.K.1
Smith, M.E.2
Dudley, J.P.3
Williams, J.C.4
Crumley, R.L.5
Crockett, D.M.6
-
25
-
-
0005319827
-
Rhinitis and acute and chronic sinusitis
-
Bluestone C.D., Stool S.E., and Kenna M.A. (Eds), W B Saunders Co, Philadelphia
-
Wald E.R. Rhinitis and acute and chronic sinusitis. In: Bluestone C.D., Stool S.E., and Kenna M.A. (Eds). Pediatric otolaryngology. 3rd ed (1996), W B Saunders Co, Philadelphia
-
(1996)
Pediatric otolaryngology. 3rd ed
-
-
Wald, E.R.1
-
27
-
-
0005156676
-
Tracheotomy
-
Bluestone C.D., Stool S.E., and Kenna M.A. (Eds), W B Saunders Co, Philadelphia
-
Wetmore R. Tracheotomy. In: Bluestone C.D., Stool S.E., and Kenna M.A. (Eds). Pediatric otolaryngology. 3rd ed (1996), W B Saunders Co, Philadelphia
-
(1996)
Pediatric otolaryngology. 3rd ed
-
-
Wetmore, R.1
-
28
-
-
0011077132
-
Obstructive sleep disorders
-
Bluestone C.D., Stool S.E., and Kenna M.A. (Eds), W B Saunders Co, Philadelphia
-
Maddern B.R. Obstructive sleep disorders. In: Bluestone C.D., Stool S.E., and Kenna M.A. (Eds). Pediatric otolaryngology. 3rd ed (1996), W B Saunders Co, Philadelphia
-
(1996)
Pediatric otolaryngology. 3rd ed
-
-
Maddern, B.R.1
-
29
-
-
2342498337
-
Treatment of respiratory system (not just lung!) abnormalities in mucopolysaccharidosis I
-
Allen J.L. Treatment of respiratory system (not just lung!) abnormalities in mucopolysaccharidosis I. J Pediatr 144 (2004) 581-588
-
(2004)
J Pediatr
, vol.144
, pp. 581-588
-
-
Allen, J.L.1
-
31
-
-
30944460092
-
Anesthesia for an adult with mucopolysaccharidosis I
-
Ard J.L., Bekker A., and Frempong-Boadu A.K. Anesthesia for an adult with mucopolysaccharidosis I. J Clin Anesth 17 (2005) 624-626
-
(2005)
J Clin Anesth
, vol.17
, pp. 624-626
-
-
Ard, J.L.1
Bekker, A.2
Frempong-Boadu, A.K.3
-
32
-
-
0038121544
-
Postobstrutive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses
-
Walker R.W.M., Colovic V., Robinson D.N., and Dearlove O.R. Postobstrutive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. Paed Anaesth 13C (2003) 441-447
-
(2003)
Paed Anaesth
, vol.13 C
, pp. 441-447
-
-
Walker, R.W.M.1
Colovic, V.2
Robinson, D.N.3
Dearlove, O.R.4
-
33
-
-
0026049784
-
The management of otolaryngological problems in the mucopolysaccharidoses: a retrospective review
-
Ruckenstein M.J., MacDonald R.E., Clarke J.T.R., and Forte V. The management of otolaryngological problems in the mucopolysaccharidoses: a retrospective review. J Otolaryngol 20 (1991) 177-183
-
(1991)
J Otolaryngol
, vol.20
, pp. 177-183
-
-
Ruckenstein, M.J.1
MacDonald, R.E.2
Clarke, J.T.R.3
Forte, V.4
-
34
-
-
0033921465
-
Treatment of otitis media with effusion in children with mucopolysaccharidoses
-
Motamed M., Thorne S., and Narula A. Treatment of otitis media with effusion in children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 53 (2000) 121-124
-
(2000)
Int J Pediatr Otorhinolaryngol
, vol.53
, pp. 121-124
-
-
Motamed, M.1
Thorne, S.2
Narula, A.3
-
35
-
-
0019120271
-
The otologic manifestatiosn of mucopolysaccharidoses
-
Hayes E., Babin R., and Platz C. The otologic manifestatiosn of mucopolysaccharidoses. Am J Otol 2 (1980) 65-69
-
(1980)
Am J Otol
, vol.2
, pp. 65-69
-
-
Hayes, E.1
Babin, R.2
Platz, C.3
-
36
-
-
84974221179
-
Histopathological studies of the temporal bones in Hurler's disease
-
Friedmann I., Spellacy E., Crow J., and Watts R.W.E. Histopathological studies of the temporal bones in Hurler's disease. J Laryngol Otol 99 (1985) 29-41
-
(1985)
J Laryngol Otol
, vol.99
, pp. 29-41
-
-
Friedmann, I.1
Spellacy, E.2
Crow, J.3
Watts, R.W.E.4
-
37
-
-
0021342232
-
Mucopolysaccharidoses IH (Hurler's syndrome) and human temporal bone histopatholoy
-
Schachern P.A., Shea D.A., and Papparella M.M. Mucopolysaccharidoses IH (Hurler's syndrome) and human temporal bone histopatholoy. Ann Otol Rhinol Laryngol 93 (1984) 65-69
-
(1984)
Ann Otol Rhinol Laryngol
, vol.93
, pp. 65-69
-
-
Schachern, P.A.1
Shea, D.A.2
Papparella, M.M.3
-
38
-
-
33947251872
-
Permanent t-tube insertion in two patients with Hurler's syndrome
-
Oghan F., Harputluoglu U., Guclu E., Guvey A., Turan N., and Ozturk O. Permanent t-tube insertion in two patients with Hurler's syndrome. Int J Audiol 46 (2007) 94-96
-
(2007)
Int J Audiol
, vol.46
, pp. 94-96
-
-
Oghan, F.1
Harputluoglu, U.2
Guclu, E.3
Guvey, A.4
Turan, N.5
Ozturk, O.6
-
39
-
-
70249103298
-
The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
-
Wraith J.E., and Cleary M.A. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Pediatr (1995)
-
(1995)
Acta Pediatr
-
-
Wraith, J.E.1
Cleary, M.A.2
-
40
-
-
0026877807
-
Repercussões psico-sociais na criança com Mucopolissacaridose
-
Martins M., and Fonseca M.H. Repercussões psico-sociais na criança com Mucopolissacaridose. Acta Medica Portuguesa 5 (1995) 329-334
-
(1995)
Acta Medica Portuguesa
, vol.5
, pp. 329-334
-
-
Martins, M.1
Fonseca, M.H.2
-
41
-
-
70249131992
-
Deficiências: alternativas de intervenção
-
Becker E. Deficiências: alternativas de intervenção. Casa do Psicólogo 95 (1997) 31-52
-
(1997)
Casa do Psicólogo
, vol.95
, pp. 31-52
-
-
Becker, E.1
-
42
-
-
0034955983
-
Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation
-
Seto T., et al. Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann Neurol 50 (2001) 79-92
-
(2001)
Ann Neurol
, vol.50
, pp. 79-92
-
-
Seto, T.1
-
43
-
-
0019377996
-
Computed tomography studies on patients with mucopolysaccharidoses
-
Watts R.W.E., Spellacy E., Kendall B.E., du Boulay G., and Gibbs D.A. Computed tomography studies on patients with mucopolysaccharidoses. Neuroradiology 21 (1981) 9-23
-
(1981)
Neuroradiology
, vol.21
, pp. 9-23
-
-
Watts, R.W.E.1
Spellacy, E.2
Kendall, B.E.3
du Boulay, G.4
Gibbs, D.A.5
-
44
-
-
0028242070
-
Hydrocephalus and pseudomotor cerebri in the mucopolysaccharidoses
-
Sheridan M., and Johnston. Hydrocephalus and pseudomotor cerebri in the mucopolysaccharidoses. Childs Nerv Syst 10 (1994) 148-150
-
(1994)
Childs Nerv Syst
, vol.10
, pp. 148-150
-
-
Sheridan, M.1
Johnston2
-
45
-
-
0037196873
-
White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: characterization by MRI
-
Barone R., Parano E., Trifiletti R.R., Fiumara A., and Pavone P. White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: characterization by MRI. J Neurolog Sci 195 (2002) 171-175
-
(2002)
J Neurolog Sci
, vol.195
, pp. 171-175
-
-
Barone, R.1
Parano, E.2
Trifiletti, R.R.3
Fiumara, A.4
Pavone, P.5
-
47
-
-
0027454528
-
Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findings
-
Taccone A., Donati P.T., Marzoli A., Acqua A.D., Gatti R., and Leone D. Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findings. Pediatr Radiol 23 (1993) 349-352
-
(1993)
Pediatr Radiol
, vol.23
, pp. 349-352
-
-
Taccone, A.1
Donati, P.T.2
Marzoli, A.3
Acqua, A.D.4
Gatti, R.5
Leone, D.6
-
48
-
-
0034526062
-
Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation
-
Kachur E., and Maestro R.D. Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 47 (2000) 223-229
-
(2000)
Neurosurgery
, vol.47
, pp. 223-229
-
-
Kachur, E.1
Maestro, R.D.2
-
49
-
-
18044399528
-
Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysaccharidosis
-
Dalvie S.S., Noorden F.R.C.S., and Vellodi A. Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysaccharidosis. Spine 26 (2001) E539-E541
-
(2001)
Spine
, Issue.26
-
-
Dalvie, S.S.1
Noorden, F.R.C.S.2
Vellodi, A.3
-
50
-
-
0002243966
-
Cardiac manifestations of genetic disease
-
Moss A. (Ed), Williams & Wilkins, London
-
Pierpont M.E.M., and Moller J.H. Cardiac manifestations of genetic disease. In: Moss A. (Ed). Heart disease in infants, children, and adolescents. 5th ed (1995), Williams & Wilkins, London 1486-1520
-
(1995)
Heart disease in infants, children, and adolescents. 5th ed
, pp. 1486-1520
-
-
Pierpont, M.E.M.1
Moller, J.H.2
-
51
-
-
35248839985
-
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
-
Published online
-
Soliman O.I.I., Timmermans R.G.M., Nemes A., et al. Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J Inherit Metab Dis (2007) Published online
-
(2007)
J Inherit Metab Dis
-
-
Soliman, O.I.I.1
Timmermans, R.G.M.2
Nemes, A.3
-
52
-
-
0024544720
-
Hurler syndrome with cardiomyiopathy in infancy
-
Donaldson M.D.C., Pennock C.A., Berry P.J., et al. Hurler syndrome with cardiomyiopathy in infancy. J Pediatr 114 (1989) 430-432
-
(1989)
J Pediatr
, vol.114
, pp. 430-432
-
-
Donaldson, M.D.C.1
Pennock, C.A.2
Berry, P.J.3
-
53
-
-
0026671148
-
Echo-Doppler abnormalities in mucopolysaccharide storage diseases
-
Farina V., Leva F., Caso P., et al. Echo-Doppler abnormalities in mucopolysaccharide storage diseases. Acta Paediatr 81 (1992) 702-704
-
(1992)
Acta Paediatr
, vol.81
, pp. 702-704
-
-
Farina, V.1
Leva, F.2
Caso, P.3
-
54
-
-
0036345045
-
Cardiovascular changes in children with mucopysaccharide disorders
-
Mohan U.R., Hay A.A., Cleary M.A., et al. Cardiovascular changes in children with mucopysaccharide disorders. Acta Paediatr 91 (2002) 799-804
-
(2002)
Acta Paediatr
, vol.91
, pp. 799-804
-
-
Mohan, U.R.1
Hay, A.A.2
Cleary, M.A.3
-
55
-
-
0031834476
-
Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders-clinical and echocardiographic findings in 64 patients
-
Dangel J.H. 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
-
(1998)
Eur J Pediatr
, vol.157
, pp. 534-538
-
-
Dangel, J.H.1
-
56
-
-
0036435467
-
Cardiac structural involviment in mucopolysaccharidoses
-
Rigante D., and Segni G. Cardiac structural involviment in mucopolysaccharidoses. Cardiology 98 (2002) 18-20
-
(2002)
Cardiology
, vol.98
, pp. 18-20
-
-
Rigante, D.1
Segni, G.2
-
57
-
-
0033024779
-
Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome)
-
Fischer T.A., Lehr H.A., Nixdorff U., and Meyer J. Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). Heart 81 (1999) 97-99
-
(1999)
Heart
, vol.81
, pp. 97-99
-
-
Fischer, T.A.1
Lehr, H.A.2
Nixdorff, U.3
Meyer, J.4
-
58
-
-
0031716809
-
Surgical treatment for Scheie syndrome (mucopolysaccharidosis type I-S)-report of two cases
-
Minakata K., Konishi Y., Matsumoto M., and Miwa S. Surgical treatment for Scheie syndrome (mucopolysaccharidosis type I-S)-report of two cases. Jpn Circ J 62 (1998) 700-703
-
(1998)
Jpn Circ J
, vol.62
, pp. 700-703
-
-
Minakata, K.1
Konishi, Y.2
Matsumoto, M.3
Miwa, S.4
-
59
-
-
3543048804
-
Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity
-
Belmont P.J. Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity. Mil Med 10 (1998) 711-714
-
(1998)
Mil Med
, vol.10
, pp. 711-714
-
-
Belmont, P.J.1
-
60
-
-
0037322823
-
Sheie syndrome (MPS-IS) presented as bilateral trigger thumb
-
Matsui Y., Kawabata H., Nakayama M., Ozono, Keiichi, Kitoch H., et al. Sheie syndrome (MPS-IS) presented as bilateral trigger thumb. Pediatr Int (2003)
-
(2003)
Pediatr Int
-
-
Matsui, Y.1
Kawabata, H.2
Nakayama, M.3
Ozono4
Keiichi5
Kitoch, H.6
-
63
-
-
33947162112
-
Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation
-
Khanna G., Van Heest A.E., Agel J., Bjoraker K., Grewal S., Abel S., et al. Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation. Bone Marrow Transplant 39 (2007) 331-334
-
(2007)
Bone Marrow Transplant
, vol.39
, pp. 331-334
-
-
Khanna, G.1
Van Heest, A.E.2
Agel, J.3
Bjoraker, K.4
Grewal, S.5
Abel, S.6
-
64
-
-
0030831327
-
Carpal tunel syndrome in the mucopolysaccharidoses
-
Haddad F.S., Jones D.H.A., Vellodi A., et al. Carpal tunel syndrome in the mucopolysaccharidoses. J Bone Joint Surg 79-B (1997) 576-582
-
(1997)
J Bone Joint Surg
, Issue.79 -B
, pp. 576-582
-
-
Haddad, F.S.1
Jones, D.H.A.2
Vellodi, A.3
-
65
-
-
70249132355
-
Neurological complications of MPS. In: 4th International Symposium on Mucopolysaccharide and Related Diseases program
-
p. 36
-
Sillence D. Neurological complications of MPS. In: 4th International Symposium on Mucopolysaccharide and Related Diseases program. Wollongong, Australia (1996) p. 36
-
(1996)
Wollongong, Australia
-
-
Sillence, D.1
-
66
-
-
0029828768
-
Hid dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation
-
Masterson E.L., Murphy P.G., O'Meara A., Moore D.P., Dowling F.E., and Fogarty E.E. Hid dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation. J Paediatr Orthopaed 16 (1996) 731-733
-
(1996)
J Paediatr Orthopaed
, vol.16
, pp. 731-733
-
-
Masterson, E.L.1
Murphy, P.G.2
O'Meara, A.3
Moore, D.P.4
Dowling, F.E.5
Fogarty, E.E.6
-
67
-
-
0025070905
-
Carpal tunnel syndrome in the mucopolysaccharidosis and related disorders
-
Wraith J.E., and Alani S.M. Carpal tunnel syndrome in the mucopolysaccharidosis and related disorders. Arch Dis Child 65 (1990) 962-963
-
(1990)
Arch Dis Child
, vol.65
, pp. 962-963
-
-
Wraith, J.E.1
Alani, S.M.2
-
68
-
-
0023901110
-
Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release
-
Pronicka E., Tylki-Szymanska A., Kwast O., Chmielik J., Maciejko D., and Cedro A. Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release. J Ment Defic Res 32 Pt 1 (1988) 79-82
-
(1988)
J Ment Defic Res
, vol.32
, Issue.PART 1
, pp. 79-82
-
-
Pronicka, E.1
Tylki-Szymanska, A.2
Kwast, O.3
Chmielik, J.4
Maciejko, D.5
Cedro, A.6
-
69
-
-
0035905889
-
Enzyme replacement therapy in, ucopolysaccharidosis I
-
Kakkis E.D., Muenzer J., Tiller G.E., et al. Enzyme replacement therapy in, ucopolysaccharidosis I. N Engl J Med 344 (2001) 182-188
-
(2001)
N Engl J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
-
70
-
-
34447121276
-
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha- L-iduronidase (laronidase)
-
Wraith J.E., Beck M., Lane R., et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha- L-iduronidase (laronidase). Pediatrics 120 (2007) e37-e46
-
(2007)
Pediatrics
, vol.120
-
-
Wraith, J.E.1
Beck, M.2
Lane, R.3
-
71
-
-
0037228866
-
In vivo microstructural analysis of the cornea in Schei's syndrome
-
Grupcheva C.N., Craig J., and McGhee N.J. In vivo microstructural analysis of the cornea in Schei's syndrome. Cornea 22 (2003) 76-79
-
(2003)
Cornea
, vol.22
, pp. 76-79
-
-
Grupcheva, C.N.1
Craig, J.2
McGhee, N.J.3
-
72
-
-
33646418438
-
The ocular features of the mucopolysaccharidoses
-
Ashworth J.L., Biswas S., Wraith E., and Lloyd C. The ocular features of the mucopolysaccharidoses. Eye 20 (2005) 553
-
(2005)
Eye
, vol.20
, pp. 553
-
-
Ashworth, J.L.1
Biswas, S.2
Wraith, E.3
Lloyd, C.4
-
74
-
-
0025184826
-
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3
-
Scott H.S., Ashton L.J., Eyre H.J., Baker E., Brooks D.A., Callen D.F., et al. Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. Am J Hum Genet 47 (1990) 802-807
-
(1990)
Am J Hum Genet
, vol.47
, pp. 802-807
-
-
Scott, H.S.1
Ashton, L.J.2
Eyre, H.J.3
Baker, E.4
Brooks, D.A.5
Callen, D.F.6
-
75
-
-
0027017317
-
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler phenotype
-
Scott H.S., Litjens T., Hopwood J.J., and Morris C.P. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler phenotype. Hum Mutat 1 (1992) 103-108
-
(1992)
Hum Mutat
, vol.1
, pp. 103-108
-
-
Scott, H.S.1
Litjens, T.2
Hopwood, J.J.3
Morris, C.P.4
-
76
-
-
0026746126
-
Structure and sequence of the human alpha-L-iduronidase gene
-
Scott H.S., Guo X.H., Hopwood J.J., and Morris C.P. Structure and sequence of the human alpha-L-iduronidase gene. Genomics 13 (1992) 1311-1313
-
(1992)
Genomics
, vol.13
, pp. 1311-1313
-
-
Scott, H.S.1
Guo, X.H.2
Hopwood, J.J.3
Morris, C.P.4
-
77
-
-
0027018480
-
Alpha-L-iduronidase mutations (Q70X and P533R) associated with a severe Hurler phenotype
-
Scott H.S., et al. Alpha-L-iduronidase mutations (Q70X and P533R) associated with a severe Hurler phenotype. Hum Mutat 1 (1992) 333-339
-
(1992)
Hum Mutat
, vol.1
, pp. 333-339
-
-
Scott, H.S.1
-
78
-
-
0028363785
-
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two commom alpha-L-iduronidase mutations (W402X and Q70X) among European patients
-
Bunge S., Kleijer W.J., Steglich C., Beck M., Zuther C., Morris C.P., et al. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two commom alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 3 (1994) 861
-
(1994)
Hum Mol Genet
, vol.3
, pp. 861
-
-
Bunge, S.1
Kleijer, W.J.2
Steglich, C.3
Beck, M.4
Zuther, C.5
Morris, C.P.6
-
79
-
-
0032249356
-
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: high prevalence of the W402X mutation
-
Gort L., and Chabs C.MJ. Analysis of five mutations in 20 mucopolysaccharidosis type I patients: high prevalence of the W402X mutation. Hum Mutat 11 (1998) 332
-
(1998)
Hum Mutat
, vol.11
, pp. 332
-
-
Gort, L.1
Chabs, C.MJ.2
-
80
-
-
0032192373
-
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union
-
Voskoboeva E.Y., Krasnopolskaya X.D., Mirenburg T.V., Weber B., and Hopwood J.J. Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. Mol Genet Metab 65 (1998) 174
-
(1998)
Mol Genet Metab
, vol.65
, pp. 174
-
-
Voskoboeva, E.Y.1
Krasnopolskaya, X.D.2
Mirenburg, T.V.3
Weber, B.4
Hopwood, J.J.5
-
81
-
-
0027379866
-
Molecular analysis of Hurler syndrome in Druze and Muslim patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area
-
Bach G., Moskowitz S.M., Tieu P.T., Matynia A., and Neufeld E.F. Molecular analysis of Hurler syndrome in Druze and Muslim patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53 (1993) 330
-
(1993)
Am J Hum Genet
, vol.53
, pp. 330
-
-
Bach, G.1
Moskowitz, S.M.2
Tieu, P.T.3
Matynia, A.4
Neufeld, E.F.5
-
82
-
-
0030061098
-
Mucopolysaccharidosis type I patients: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
-
Yamagishi A., Tomatsu S., Fukuda S., Uchiyama A., Shimozawa N., Susuki Y., et al. Mucopolysaccharidosis type I patients: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum Mutat 7 (1996) 23
-
(1996)
Hum Mutat
, vol.7
, pp. 23
-
-
Yamagishi, A.1
Tomatsu, S.2
Fukuda, S.3
Uchiyama, A.4
Shimozawa, N.5
Susuki, Y.6
-
83
-
-
0347297299
-
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
-
Matte U., Yogalingam G., Brooks D., Leistner S., Schwatz I., Lima L., et al. Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab 78 (2003) 37-43
-
(2003)
Mol Genet Metab
, vol.78
, pp. 37-43
-
-
Matte, U.1
Yogalingam, G.2
Brooks, D.3
Leistner, S.4
Schwatz, I.5
Lima, L.6
-
84
-
-
0029655810
-
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency
-
Aronovich E.L., Pan D., and Whiteley C.B. Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. Am J Hum Genet 58 (1996) 75-85
-
(1996)
Am J Hum Genet
, vol.58
, pp. 75-85
-
-
Aronovich, E.L.1
Pan, D.2
Whiteley, C.B.3
-
85
-
-
0035064872
-
Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility 0f newborn diagnosis
-
Chamoles N.A., Blanco M., and Gaggioli D. Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility 0f newborn diagnosis. Clin Chem 47 (2001) 780-781
-
(2001)
Clin Chem
, vol.47
, pp. 780-781
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
-
86
-
-
0035202118
-
Hurler-like phenotype: enzuimatic diagnosis in dried blood spots on filter paper
-
Chamoles N.A., Blanco M., Gaggioli D., and Casentini C. Hurler-like phenotype: enzuimatic diagnosis in dried blood spots on filter paper. Clin Chem 47 (2001) 2098-2102
-
(2001)
Clin Chem
, vol.47
, pp. 2098-2102
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
Casentini, C.4
-
87
-
-
34047274124
-
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I
-
Pastores G.M., Arn P., Beck M., Clarke J.T., Guffon N., Kaplan P., et al. 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 (2007) 37-47
-
(2007)
Mol Genet Metab
, vol.91
, pp. 37-47
-
-
Pastores, G.M.1
Arn, P.2
Beck, M.3
Clarke, J.T.4
Guffon, N.5
Kaplan, P.6
-
88
-
-
33645457925
-
Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy
-
Hingston E.J., Hunter M.L., Hunter B., and Drage N. Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy. Int J Paediatr Dent 16 (2006) 207-212
-
(2006)
Int J Paediatr Dent
, vol.16
, pp. 207-212
-
-
Hingston, E.J.1
Hunter, M.L.2
Hunter, B.3
Drage, N.4
-
89
-
-
37249079178
-
Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin
-
[Epub ahead of print]
-
Guven G., Cehreli Z.C., Altun C., Sencimen M., Ide S., Bayari S.H., et al. Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (Jun 27, 2007) [Epub ahead of print]
-
(2007)
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
-
-
Guven, G.1
Cehreli, Z.C.2
Altun, C.3
Sencimen, M.4
Ide, S.5
Bayari, S.H.6
-
90
-
-
33750194666
-
Gross motor abilities in children with Hurler syndrome
-
Dusing S.C., Thorpe D., Rosenberg A., Mercer V., and Escolar M.L. Gross motor abilities in children with Hurler syndrome. Dev Med Child Neurol 48 (2006) 927-930
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 927-930
-
-
Dusing, S.C.1
Thorpe, D.2
Rosenberg, A.3
Mercer, V.4
Escolar, M.L.5
-
91
-
-
33745263740
-
A physical performance measure for individuals with mucopolysaccharidosis type I
-
Haley S.M., Fragala, Pinkham MA., Dumas H.M., Ni P., Skrinar A.M., et al. A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol 48 (2006) 576-581
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 576-581
-
-
Haley, S.M.1
Fragala2
Pinkham, MA.3
Dumas, H.M.4
Ni, P.5
Skrinar, A.M.6
-
94
-
-
28444460210
-
Aquatic exercise for children with cerebral palsy
-
Kelly M., and Darrah J. Aquatic exercise for children with cerebral palsy. Dev Med Child Neurol 47 (2005) 838-842
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 838-842
-
-
Kelly, M.1
Darrah, J.2
-
96
-
-
70249118729
-
Efeitos fisiológicos da imersão em repouso
-
Bookspan J. (Ed), Manole, São Paulo
-
Ruoti R.G., Morris D.M., and Cole A.J. Efeitos fisiológicos da imersão em repouso. In: Bookspan J. (Ed). Reabilitação aquatica (2000), Manole, São Paulo 29-42
-
(2000)
Reabilitação aquatica
, pp. 29-42
-
-
Ruoti, R.G.1
Morris, D.M.2
Cole, A.J.3
-
97
-
-
0036247196
-
New prospects for the treatment of lysosomal storage diseases
-
Schiffmann R., and Brady R.O. New prospects for the treatment of lysosomal storage diseases. Drugs 62 (2002) 733-742
-
(2002)
Drugs
, vol.62
, pp. 733-742
-
-
Schiffmann, R.1
Brady, R.O.2
-
98
-
-
2342535103
-
Cord-bood transplants from unrelated donors in patients with Hurler's syndrome
-
Staba S.L., Escolar M.L., Poe M., Kim Y., Martin P.L., Szabolcs P., et al. Cord-bood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 350 (2004) 1960-1969
-
(2004)
N Engl J Med
, vol.350
, pp. 1960-1969
-
-
Staba, S.L.1
Escolar, M.L.2
Poe, M.3
Kim, Y.4
Martin, P.L.5
Szabolcs, P.6
-
99
-
-
0037295890
-
Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines
-
Peters C., and Steward C.G. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 31 (2003) 229-239
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 229-239
-
-
Peters, C.1
Steward, C.G.2
-
100
-
-
2342535103
-
Cord-blood transplants from unrelated donors in Hurler's syndrome
-
Fujisaki G., Kami M., and Kishi Y. Cord-blood transplants from unrelated donors in Hurler's syndrome. N Engl J Med 350 (2004) 1960-1969
-
(2004)
N Engl J Med
, vol.350
, pp. 1960-1969
-
-
Fujisaki, G.1
Kami, M.2
Kishi, Y.3
-
101
-
-
31644432464
-
Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development
-
Baxter M.A., Wynn R.F., Schyma L., Holmes D.K., Wraith J.E., Fairbairn L.J., et al. Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development. J Inherit Metab Dis 28 (2005) 1045-1053
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 1045-1053
-
-
Baxter, M.A.1
Wynn, R.F.2
Schyma, L.3
Holmes, D.K.4
Wraith, J.E.5
Fairbairn, L.J.6
-
102
-
-
33846987553
-
Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease
-
Church H., Tylee K., Cooper A., Thornley M., Mercer J., Wraith E., et al. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant 39 (2007) 207-210
-
(2007)
Bone Marrow Transplant
, vol.39
, pp. 207-210
-
-
Church, H.1
Tylee, K.2
Cooper, A.3
Thornley, M.4
Mercer, J.5
Wraith, E.6
-
103
-
-
0035499168
-
Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome
-
Braunlin E.A., Rose A.G., Hopwood J.J., Candel R.D., and Krivit W. Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol 88 (2001) 1075-1077
-
(2001)
Am J Cardiol
, vol.88
, pp. 1075-1077
-
-
Braunlin, E.A.1
Rose, A.G.2
Hopwood, J.J.3
Candel, R.D.4
Krivit, W.5
-
104
-
-
10744223978
-
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
-
Souillet G., Guffon N., Maire I., Pujol M., Taylor P., Sevin F., et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 31 (2003) 1105-1117
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 1105-1117
-
-
Souillet, G.1
Guffon, N.2
Maire, I.3
Pujol, M.4
Taylor, P.5
Sevin, F.6
-
105
-
-
0141459294
-
Usefulness of bone marrow transplantation in the Hurler syndrome
-
Braunlin E.A., Stauffer N.R., Peters C.H., Bass J.L., Berry J.M., and Hopwood J.J. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 92 (2003) 882-886
-
(2003)
Am J Cardiol
, vol.92
, pp. 882-886
-
-
Braunlin, E.A.1
Stauffer, N.R.2
Peters, C.H.3
Bass, J.L.4
Berry, J.M.5
Hopwood, J.J.6
-
106
-
-
41849100362
-
Mobility in Hurler syndrome
-
Taylor C., Brady P., O'Meara A., Moore D., Dowling F., and Fogarty E. Mobility in Hurler syndrome. J Pediatr Orthop 28 (2008) 163-168
-
(2008)
J Pediatr Orthop
, vol.28
, pp. 163-168
-
-
Taylor, C.1
Brady, P.2
O'Meara, A.3
Moore, D.4
Dowling, F.5
Fogarty, E.6
-
107
-
-
0022875823
-
Psychomotor development of children with mucopolysaccharidoses type 1-H following bone marrow transplantation
-
Hugh-Jones K. Psychomotor development of children with mucopolysaccharidoses type 1-H following bone marrow transplantation. Birth Defects 22 (1986) 25
-
(1986)
Birth Defects
, vol.22
, pp. 25
-
-
Hugh-Jones, K.1
-
108
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
-
Peters C., Balthazor M., Shapiro E.G., King R.J., Kollman C., Hegland J.D., et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87 (1996) 4894-4902
-
(1996)
Blood
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.G.3
King, R.J.4
Kollman, C.5
Hegland, J.D.6
-
109
-
-
0031018301
-
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centers
-
Vellodi A., Young E.P., Cooper A., Wraith J.E., Winchester B., Meaney C., et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centers. Arch Dis Child 76 (1997) 92-99
-
(1997)
Arch Dis Child
, vol.76
, pp. 92-99
-
-
Vellodi, A.1
Young, E.P.2
Cooper, A.3
Wraith, J.E.4
Winchester, B.5
Meaney, C.6
-
110
-
-
33847795698
-
Allogeneic stem cell transplantation for genetic disorders
-
Soni S. Allogeneic stem cell transplantation for genetic disorders. J Ky Med Assoc 105 (2007) 12-16
-
(2007)
J Ky Med Assoc
, vol.105
, pp. 12-16
-
-
Soni, S.1
-
111
-
-
0032197968
-
The use of partially HLA-mismatched donors for allogenic transplantation in patients with mucopolysacharidosis-I
-
Fleming D.R., Henslee-Downey P.J., Ciocci G., Romond E.H., Marciniak E., Munn R.K., et al. The use of partially HLA-mismatched donors for allogenic transplantation in patients with mucopolysacharidosis-I. Pediatr Transplant 2 (1998) 299-304
-
(1998)
Pediatr Transplant
, vol.2
, pp. 299-304
-
-
Fleming, D.R.1
Henslee-Downey, P.J.2
Ciocci, G.3
Romond, E.H.4
Marciniak, E.5
Munn, R.K.6
-
112
-
-
0036237658
-
Outcome of second hematopoietic cell transplantation in Hurler syndrome
-
Grewal S.S., Krivit W., Defor T.E., Shapiro E.G., Orchard P.J., Abel S.L., et al. Outcome of second hematopoietic cell transplantation in Hurler syndrome. Bone Marrow Transplant 29 (2002) 491-496
-
(2002)
Bone Marrow Transplant
, vol.29
, pp. 491-496
-
-
Grewal, S.S.1
Krivit, W.2
Defor, T.E.3
Shapiro, E.G.4
Orchard, P.J.5
Abel, S.L.6
-
113
-
-
0032055564
-
Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children
-
Peters C., Shapiro E.G., Anderson J., Henslee-Downey P.J., Klemperer M.R., Cowan M.J., et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood 91 (1998) 2601-2608
-
(1998)
Blood
, vol.91
, pp. 2601-2608
-
-
Peters, C.1
Shapiro, E.G.2
Anderson, J.3
Henslee-Downey, P.J.4
Klemperer, M.R.5
Cowan, M.J.6
-
114
-
-
33646450545
-
Bone marrow transplantation in patients with storage diseases: a developing country experience
-
Lange M.C., Teive H.A., Troiano A.R., Bitencourt M., Funke V.A., Setúbal D.C., et al. Bone marrow transplantation in patients with storage diseases: a developing country experience. Arq Neuropsiquiatr 64 (2006) 1-4
-
(2006)
Arq Neuropsiquiatr
, vol.64
, pp. 1-4
-
-
Lange, M.C.1
Teive, H.A.2
Troiano, A.R.3
Bitencourt, M.4
Funke, V.A.5
Setúbal, D.C.6
-
115
-
-
34547147899
-
Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure
-
Boelens J.J., Wynn R.F., O'Meara A., et al. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant 40 (2007) 225-233
-
(2007)
Bone Marrow Transplant
, vol.40
, pp. 225-233
-
-
Boelens, J.J.1
Wynn, R.F.2
O'Meara, A.3
-
116
-
-
20944443759
-
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
-
Grewal S.S., Wynn R., Abdenur J.E., Burton B.K., Gharib M., Haase C., et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 7 (2005) 143-146
-
(2005)
Genet Med
, vol.7
, pp. 143-146
-
-
Grewal, S.S.1
Wynn, R.2
Abdenur, J.E.3
Burton, B.K.4
Gharib, M.5
Haase, C.6
-
117
-
-
33745099961
-
Trends in haematopoietic cell transplantation for inborn errors of metabolism
-
Boelens J.J. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 29 (2006) 413-420
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 413-420
-
-
Boelens, J.J.1
-
118
-
-
33745257246
-
Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome
-
Cox-Brinkman J., Boelens J.J., Wraith J.E., O'Meara A., Veys P., Wijburg F.A., et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 38 (2006) 17-21
-
(2006)
Bone Marrow Transplant
, vol.38
, pp. 17-21
-
-
Cox-Brinkman, J.1
Boelens, J.J.2
Wraith, J.E.3
O'Meara, A.4
Veys, P.5
Wijburg, F.A.6
-
119
-
-
41549136110
-
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome
-
Tolar J., Grewal S.S., Bjoraker K.J., et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant 41 (2007) 531-535
-
(2007)
Bone Marrow Transplant
, vol.41
, pp. 531-535
-
-
Tolar, J.1
Grewal, S.S.2
Bjoraker, K.J.3
-
120
-
-
0035999743
-
Enzyme replacement therapy for the mucopolysaccharide storage disorders
-
Kakkis E.D. Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opin Investig Drugs 11 (2002) 675-685
-
(2002)
Expert Opin Investig Drugs
, vol.11
, pp. 675-685
-
-
Kakkis, E.D.1
-
121
-
-
0035000479
-
Enzyme replacement therapy in mucopolysacccharidosis type I: progress and emerging difficulties
-
Wraith J.E. Enzyme replacement therapy in mucopolysacccharidosis type I: progress and emerging difficulties. J Inherit Metab Dis 24 (2001) 245-250
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 245-250
-
-
Wraith, J.E.1
-
122
-
-
70249117987
-
-
United States Food and Drug Administration. Available at
-
United States Food and Drug Administration. Aldurazyme approval information. Available at (2003). http://www.fda.gov/cder/biologics/products/larobio043003.htm
-
(2003)
Aldurazyme approval information
-
-
-
123
-
-
70249117987
-
-
European Agency for the Evaluation of Medical Products. Available at
-
European Agency for the Evaluation of Medical Products. Aldurazyme approval information. Available at (2003). http://www.emea.eu.int/humandocs/Humans/EPAR/aldurazyme/aldurazyme.htm
-
(2003)
Aldurazyme approval information
-
-
-
124
-
-
64049115627
-
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I
-
In press
-
Giugliani R., Muñoz Rojas V., Martins A.M., Valadares E.R., Clarke J.T.R., Góes J., et al. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab (2008) In press
-
(2008)
Mol Genet Metab
-
-
Giugliani, R.1
Muñoz Rojas, V.2
Martins, A.M.3
Valadares, E.R.4
Clarke, J.T.R.5
Góes, J.6
-
125
-
-
59449083175
-
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
-
In press
-
Clarke L., Wraith J.E., Beck M., et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) In press
-
(2009)
Pediatrics
-
-
Clarke, L.1
Wraith, J.E.2
Beck, M.3
-
126
-
-
70249088515
-
The clinical benefit of Aldurazyme (laronidase) for the treatment of MPS I
-
Pastores G.M., Wraith J.E., Clarke L.A., et al. The clinical benefit of Aldurazyme (laronidase) for the treatment of MPS I. Am J Hum Genet 73 (2003) 624
-
(2003)
Am J Hum Genet
, vol.73
, pp. 624
-
-
Pastores, G.M.1
Wraith, J.E.2
Clarke, L.A.3
-
127
-
-
17144387390
-
Efficacy of Aldurazyme enzyme replacement therapy on joint mobility I MPS I
-
Bajbouj M., Beck M., Wraith J.E., et al. Efficacy of Aldurazyme enzyme replacement therapy on joint mobility I MPS I. Am J Hum Genet 73 (2003) 621
-
(2003)
Am J Hum Genet
, vol.73
, pp. 621
-
-
Bajbouj, M.1
Beck, M.2
Wraith, J.E.3
-
128
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
Wraith J.E., Clarke L.A., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., 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 144 (2004) 561-562
-
(2004)
J Pediatr
, vol.144
, pp. 561-562
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
Kolodny, E.H.4
Pastores, G.M.5
Muenzer, J.6
-
129
-
-
16844384688
-
Enzyme replacement therapy in mucopolysaccharidosis type I
-
Miebach E. Enzyme replacement therapy in mucopolysaccharidosis type I. Acta Paediatr Suppl 94 (2005) 58-60
-
(2005)
Acta Paediatr Suppl
, vol.94
, pp. 58-60
-
-
Miebach, E.1
-
130
-
-
17144399564
-
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
-
Wraith J.E. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6 (2005) 489-506
-
(2005)
Expert Opin Pharmacother
, vol.6
, pp. 489-506
-
-
Wraith, J.E.1
-
131
-
-
15944374314
-
Laronidase treatment of mucopolysaccharidosis I
-
Wraith J.E., Hopwood J.J., Fuller M., Meikle P.J., and Brooks D.A. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 19 (2005) 1-7
-
(2005)
BioDrugs
, vol.19
, pp. 1-7
-
-
Wraith, J.E.1
Hopwood, J.J.2
Fuller, M.3
Meikle, P.J.4
Brooks, D.A.5
-
132
-
-
33745943855
-
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I
-
Braunlin E.A., Berry J.M., and Whitley C.B. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 98 (2006) 416-418
-
(2006)
Am J Cardiol
, vol.98
, pp. 416-418
-
-
Braunlin, E.A.1
Berry, J.M.2
Whitley, C.B.3
-
133
-
-
47149118574
-
Impact of 144 weeks of laronidase therapy on body functions, endurance and general well-being in a Hurler-Scheie patient
-
Soutar R.L., Mercer J., and Wraith J.E. Impact of 144 weeks of laronidase therapy on body functions, endurance and general well-being in a Hurler-Scheie patient. J Inherit Metab Dis 29 (2006) 590
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 590
-
-
Soutar, R.L.1
Mercer, J.2
Wraith, J.E.3
-
134
-
-
33846198829
-
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
-
Sifuentes M., Doroshow R., Hoft R., Mason G., Walot I., Diament M., et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90 (2007) 171-180
-
(2007)
Mol Genet Metab
, vol.90
, pp. 171-180
-
-
Sifuentes, M.1
Doroshow, R.2
Hoft, R.3
Mason, G.4
Walot, I.5
Diament, M.6
-
135
-
-
23044515584
-
Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase
-
Sardón O., García Pardos C., Mintegui J., Pérez Ruiz E., Coll M.J., Chabás A., et al. Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase. Ann Pediatr (Barc) 63 (2005) 61-67
-
(2005)
Ann Pediatr (Barc)
, vol.63
, pp. 61-67
-
-
Sardón, O.1
García Pardos, C.2
Mintegui, J.3
Pérez Ruiz, E.4
Coll, M.J.5
Chabás, A.6
-
136
-
-
34249011209
-
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I
-
Tokic V., Barisic I., Huzjak N., Petkovic G., Fumic K., and Paschke E. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur J Pediatr 166 (2007) 727-732
-
(2007)
Eur J Pediatr
, vol.166
, pp. 727-732
-
-
Tokic, V.1
Barisic, I.2
Huzjak, N.3
Petkovic, G.4
Fumic, K.5
Paschke, E.6
-
137
-
-
33645670132
-
Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I
-
Anbu A.T., Mercer J., and Wraith J.E. Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I. J Inherit Metab Dis 29 (2006) 230-231
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 230-231
-
-
Anbu, A.T.1
Mercer, J.2
Wraith, J.E.3
-
138
-
-
34547642178
-
Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy
-
Wegrzyn G., Tylki-Szymańska A., Liberek A., Piotrowska E., Jakóbkiewicz-Banecka J., Marucha J., et al. Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy. Am J Med Genet A 143 (2007) 1925-1927
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1925-1927
-
-
Wegrzyn, G.1
Tylki-Szymańska, A.2
Liberek, A.3
Piotrowska, E.4
Jakóbkiewicz-Banecka, J.5
Marucha, J.6
-
139
-
-
0026904369
-
Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene
-
Anson D.S., Bielicki J., and Hopwood J.J. Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene. Hum Gene Ther 3 (1992) 371-379
-
(1992)
Hum Gene Ther
, vol.3
, pp. 371-379
-
-
Anson, D.S.1
Bielicki, J.2
Hopwood, J.J.3
-
140
-
-
3042857400
-
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene
-
Hartung S.D., Frandsen J.L., Pan D., Koniar B.L., Graupman P., Gunther R., et al. Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol Ther 9 (2004) 866-875
-
(2004)
Mol Ther
, vol.9
, pp. 866-875
-
-
Hartung, S.D.1
Frandsen, J.L.2
Pan, D.3
Koniar, B.L.4
Graupman, P.5
Gunther, R.6
-
141
-
-
0033559722
-
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency
-
Lutzko C., Kruth S., Abrams-Ogg A.C., Lau K., Li L., Clark B.R., et al. Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. Blood 93 (1999) 1895-1905
-
(1999)
Blood
, vol.93
, pp. 1895-1905
-
-
Lutzko, C.1
Kruth, S.2
Abrams-Ogg, A.C.3
Lau, K.4
Li, L.5
Clark, B.R.6
-
142
-
-
0029761477
-
Myoblast gene therapy in canine mucopolysaccharidosis. I: abrogation by an immune response to alpha-L-iduronidase
-
Shull R.M., Lu X., McEntee M.F., Bright R.M., Pepper K.A., and Kohn D.B. Myoblast gene therapy in canine mucopolysaccharidosis. I: abrogation by an immune response to alpha-L-iduronidase. Hum Gene Ther 7 (1996) 1595-1603
-
(1996)
Hum Gene Ther
, vol.7
, pp. 1595-1603
-
-
Shull, R.M.1
Lu, X.2
McEntee, M.F.3
Bright, R.M.4
Pepper, K.A.5
Kohn, D.B.6
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