-
1
-
-
0000869162
-
The mucopolysaccharidosis
-
Medical Publishing Division, Mc Graw-Hill, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein (Eds.)
-
Neufeld E.F., Muenzer J. The mucopolysaccharidosis. The Metabolic and Molecular Basis of Inherited Disease 2001, III:3421. Medical Publishing Division, Mc Graw-Hill. eighth ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, B. Vogelstein (Eds.).
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, vol.3
, pp. 3421
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
38949143787
-
The mucopolysaccharidoses: a success of molecular medicine
-
Clarke Lorne A. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev. Mol. Med. 2008, 10:e1. 10.1017/S1462399408000550.
-
(2008)
Expert Rev. Mol. Med.
, vol.10
-
-
Clarke, L.A.1
-
3
-
-
0001509153
-
A new dysostosis with urinary excretion of chondroitin-sulphate B
-
[in French].
-
Maroteaux P., Lereque B., Marie J., Lamy M. A new dysostosis with urinary excretion of chondroitin-sulphate B. Presse Med. 1963, 71:1849-1852. [in French].
-
(1963)
Presse Med.
, vol.71
, pp. 1849-1852
-
-
Maroteaux, P.1
Lereque, B.2
Marie, J.3
Lamy, M.4
-
4
-
-
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., Rapoport D.M., Berger K.I., Swiedler S.J., Kakkis E.D., Braakman T., Chadbourne E., Walton-Bowen K., Cox G.F. 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(5):581-588.
-
(2004)
J. Pediatr.
, vol.144
, Issue.5
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
Kolodny, E.H.4
Pastores, G.M.5
Muenzer, J.6
Rapoport, D.M.7
Berger, K.I.8
Swiedler, S.J.9
Kakkis, E.D.10
Braakman, T.11
Chadbourne, E.12
Walton-Bowen, K.13
Cox, G.F.14
-
5
-
-
17144399564
-
The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
-
Wraith J.E. The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert. Opin. Pharmacother. 2005, 6(3):489-506.
-
(2005)
Expert. Opin. Pharmacother.
, vol.6
, Issue.3
, pp. 489-506
-
-
Wraith, J.E.1
-
6
-
-
33846198829
-
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6years
-
Sifuentes M., Doroshow R., Hoft R., Mason G., Walot I., Diament M., Okazaki S., Huff K., Cox G.F., Swiedler S.J., Kakkis E.D. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6years. Mol. Genet. Metab. 2007, 90(2):171-180.
-
(2007)
Mol. Genet. Metab.
, vol.90
, Issue.2
, pp. 171-180
-
-
Sifuentes, M.1
Doroshow, R.2
Hoft, R.3
Mason, G.4
Walot, I.5
Diament, M.6
Okazaki, S.7
Huff, K.8
Cox, G.F.9
Swiedler, S.J.10
Kakkis, E.D.11
-
7
-
-
1542669902
-
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
-
Harmatz P., Whitley C.B., Waber L., Pais R., Steiner R., Plecko B., et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J. Pediatr. 2004, 144:574-580.
-
(2004)
J. Pediatr.
, vol.144
, pp. 574-580
-
-
Harmatz, P.1
Whitley, C.B.2
Waber, L.3
Pais, R.4
Steiner, R.5
Plecko, B.6
-
8
-
-
16844379992
-
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study
-
Harmatz P., Kramer W.G., Hopwood J.J., Simon J., Butensky E., Swiedler S.J. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr. Suppl. 2005, 94:61-68.
-
(2005)
Acta Paediatr. Suppl.
, vol.94
, pp. 61-68
-
-
Harmatz, P.1
Kramer, W.G.2
Hopwood, J.J.3
Simon, J.4
Butensky, E.5
Swiedler, S.J.6
-
9
-
-
27744493202
-
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P., Ketteridge D., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005, 115:e681-e689.
-
(2005)
Pediatrics
, vol.115
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
Schwartz, I.4
Guffon, N.5
Teles, E.L.6
Miranda, M.C.7
-
10
-
-
33744978567
-
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study
-
Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. 2006, 148:533-539.
-
(2006)
J. Pediatr.
, vol.148
, pp. 533-539
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.6
-
11
-
-
46949093352
-
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P., Giugliani R., Schwartz I.V., Guffon N., Teles E.L., Miranda M.C., et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol. Genet. Metab. 2008, 94:469-475.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 469-475
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.V.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.6
-
12
-
-
77649237484
-
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P., Yu Z.F., Giugliani R., Schwartz I.V., Guffon N., Teles E.L., et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J. Inherit. Metab. Dis. 2010, 33(1):51-60.
-
(2010)
J. Inherit. Metab. Dis.
, vol.33
, Issue.1
, pp. 51-60
-
-
Harmatz, P.1
Yu, Z.F.2
Giugliani, R.3
Schwartz, I.V.4
Guffon, N.5
Teles, E.L.6
-
13
-
-
77649340784
-
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis
-
Munoz-Rojas M.V., Horovitz D.D.G., Jardim L.B., Raymundo M., Llerena J.C., de Magalhaes T.D., et al. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol. Genet. Metab. 2009, 99(4):346-350.
-
(2009)
Mol. Genet. Metab.
, vol.99
, Issue.4
, pp. 346-350
-
-
Munoz-Rojas, M.V.1
Horovitz, D.D.G.2
Jardim, L.B.3
Raymundo, M.4
Llerena, J.C.5
de Magalhaes, T.D.6
-
14
-
-
0019948810
-
Cervical myelopathy due to dural compression in mucopolysaccharidosis
-
Kaufman H.H., Rosenberg H.S., Scott C.I., Lee Y.Y., Pruessner J.L., Butler I.J. Cervical myelopathy due to dural compression in mucopolysaccharidosis. Surg. Neurol. 1982, 17(6):404-410.
-
(1982)
Surg. Neurol.
, vol.17
, Issue.6
, pp. 404-410
-
-
Kaufman, H.H.1
Rosenberg, H.S.2
Scott, C.I.3
Lee, Y.Y.4
Pruessner, J.L.5
Butler, I.J.6
-
15
-
-
0034526062
-
Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation
-
Kachur E., Del Maestro R. Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 2000, 47(1):223-228.
-
(2000)
Neurosurgery
, vol.47
, Issue.1
, pp. 223-228
-
-
Kachur, E.1
Del Maestro, R.2
-
16
-
-
0034904562
-
Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature
-
Vougioukas V.I., Berlis A., Kopp M.V., Korinthenberg R., Spreer J., van Velthoven V. Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr. Neurosurg. 2001, 35(1):35-38.
-
(2001)
Pediatr. Neurosurg.
, vol.35
, Issue.1
, pp. 35-38
-
-
Vougioukas, V.I.1
Berlis, A.2
Kopp, M.V.3
Korinthenberg, R.4
Spreer, J.5
van Velthoven, V.6
-
17
-
-
0015606930
-
Cervical cord compression in mucopolysaccharidosis
-
Kennedy P., Swash M., Dean M.F. Cervical cord compression in mucopolysaccharidosis. Dev. Med. Child. Neurol. 1973, 15(2):194-199.
-
(1973)
Dev. Med. Child. Neurol.
, vol.15
, Issue.2
, pp. 194-199
-
-
Kennedy, P.1
Swash, M.2
Dean, M.F.3
-
18
-
-
34547682071
-
Management guidelines for mucopolysaccharidosis VI
-
Giugliani R., Harmatz P., Wraith J.E. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007, 120(2):405-418.
-
(2007)
Pediatrics
, vol.120
, Issue.2
, pp. 405-418
-
-
Giugliani, R.1
Harmatz, P.2
Wraith, J.E.3
-
19
-
-
17044427932
-
Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature
-
Mut M., Cila A., Varli K., Akalan N. Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature. Clin. Neurol. Neurosurg. 2005, 107:230-235.
-
(2005)
Clin. Neurol. Neurosurg.
, vol.107
, pp. 230-235
-
-
Mut, M.1
Cila, A.2
Varli, K.3
Akalan, N.4
-
20
-
-
0035062965
-
Craniovertebral abnormalities in type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
-
Thorne J.A., Javadpour M., Hughes D.G., Wraith E., Cowie R.A. Craniovertebral abnormalities in type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Neurosurgery 2001, 48:849-853.
-
(2001)
Neurosurgery
, vol.48
, pp. 849-853
-
-
Thorne, J.A.1
Javadpour, M.2
Hughes, D.G.3
Wraith, E.4
Cowie, R.A.5
-
21
-
-
0016670763
-
Myelopathy associated with Maroteaux-Lamy syndrome
-
Peterson D.I., Bacchus H., Seaich L., Kelly T.E. Myelopathy associated with Maroteaux-Lamy syndrome. Arch. Neurol. 1975, 32:127-129.
-
(1975)
Arch. Neurol.
, vol.32
, pp. 127-129
-
-
Peterson, D.I.1
Bacchus, H.2
Seaich, L.3
Kelly, T.E.4
-
22
-
-
0021336180
-
Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
-
Wald S.L., Schmidek H.H. Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Neurosurgery 1984, 14:83-88.
-
(1984)
Neurosurgery
, vol.14
, pp. 83-88
-
-
Wald, S.L.1
Schmidek, H.H.2
-
23
-
-
0023236384
-
Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: report of a case
-
Tamaki N., Kojima N., Tanimoto M., Suyama T., Matsumoto S. Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: report of a case. Neurosurgery 1987, 21:416-419.
-
(1987)
Neurosurgery
, vol.21
, pp. 416-419
-
-
Tamaki, N.1
Kojima, N.2
Tanimoto, M.3
Suyama, T.4
Matsumoto, S.5
-
25
-
-
85013888689
-
-
Elsevier, Butterworth Heinemann, ISBN 0 7506 7373 7, M. Hallet, S. Chokroverty (Eds.)
-
Magnetic Stimulation In Clinical Neurophysiology 2005, Elsevier, Butterworth Heinemann, ISBN 0 7506 7373 7. 2nd Ed. M. Hallet, S. Chokroverty (Eds.).
-
(2005)
Magnetic Stimulation In Clinical Neurophysiology
-
-
-
26
-
-
0026671241
-
The contribution of magnetic stimulation of the motor cortex to the diagnosis of cervical spondylotic myelopathy. Correlations of central motor conduction to distal and proximal upper limb muscles with clinical and MRI findings
-
Di Lazzaro V., Restuccia D., Colosimo C., Tonalli P. The contribution of magnetic stimulation of the motor cortex to the diagnosis of cervical spondylotic myelopathy. Correlations of central motor conduction to distal and proximal upper limb muscles with clinical and MRI findings. Electroencephalogr. Clin. Neurophysiol. 1992, 85:311-320.
-
(1992)
Electroencephalogr. Clin. Neurophysiol.
, vol.85
, pp. 311-320
-
-
Di Lazzaro, V.1
Restuccia, D.2
Colosimo, C.3
Tonalli, P.4
-
27
-
-
0025964264
-
Magnetic stimulation of the motor cortex in cervical spondylosis
-
Maertens de Noordhout A., Remacle J.M., Pepin J.L., Born J.D., Deleaide P.J. Magnetic stimulation of the motor cortex in cervical spondylosis. Neurology 1991, 41:75-80.
-
(1991)
Neurology
, vol.41
, pp. 75-80
-
-
Maertens de Noordhout, A.1
Remacle, J.M.2
Pepin, J.L.3
Born, J.D.4
Deleaide, P.J.5
-
28
-
-
0023918026
-
Electrical stimulation of the motor tracts in cervical spondylosis
-
Abbruzzese G., Dall' Agata D., et al. Electrical stimulation of the motor tracts in cervical spondylosis. J. Neurol. Neurosurg. Psychiatry 1988, 51:796-802.
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, pp. 796-802
-
-
Abbruzzese, G.1
Dall' Agata, D.2
-
29
-
-
0033944707
-
Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses
-
Boor R., Miebach E., Bruhl K., Beck M. Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses. Neuropediatrics 2000, 31:122-127.
-
(2000)
Neuropediatrics
, vol.31
, pp. 122-127
-
-
Boor, R.1
Miebach, E.2
Bruhl, K.3
Beck, M.4
-
30
-
-
0014493582
-
Spinal cord compression in Morquio-Brailsford's disease
-
Blaw M.E., Langer L.O. Spinal cord compression in Morquio-Brailsford's disease. J. Pediatr. 1969, 74:593-600.
-
(1969)
J. Pediatr.
, vol.74
, pp. 593-600
-
-
Blaw, M.E.1
Langer, L.O.2
-
31
-
-
4344577421
-
Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma
-
Dickerman R.D., Colle K.O., Bruno C.A., Schneider S.J. Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine (Phila Pa 1976) Mar 1 2004, 29(5):E92-E94.
-
(2004)
Spine (Phila Pa 1976)
, vol.29
, Issue.5
-
-
Dickerman, R.D.1
Colle, K.O.2
Bruno, C.A.3
Schneider, S.J.4
-
32
-
-
0036484327
-
Congenital osseous anomalies of the upper and lower cervical spine in children
-
Guille J.T., Sherk H.H. Congenital osseous anomalies of the upper and lower cervical spine in children. J. Bone. Join Surg. Am. 2002, 84-A:277-288.
-
(2002)
J. Bone. Join Surg. Am.
, pp. 277-288
-
-
Guille, J.T.1
Sherk, H.H.2
-
33
-
-
82455194808
-
Galsulfase [abstract]
-
MPS VI Clinical Surveillance Program Investigators, Ref Type: Abstract
-
Harmatz P., Hendriksz Christian, Giugliani Roberto, Nicely Helen, Waite Abigail Galsulfase [abstract]. Presented at the annual meeting of the American Society for Human Genetics 2010, MPS VI Clinical Surveillance Program Investigators, Ref Type: Abstract.
-
(2010)
Presented at the annual meeting of the American Society for Human Genetics
-
-
Harmatz, P.1
Hendriksz, C.2
Giugliani, R.3
Nicely, H.4
Waite, A.5
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