-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
CR Scriver, A.L.; Beaudet, A.L.; Sly, W.S.; D Valle Eds, McGraw-Hill Medical, New York
-
Neufield, E.F.; Muenzer, J. In, The mucopolysaccharidoses. CR Scriver, A.L.; Beaudet, A.L.; Sly, W.S.; D Valle Eds., The metabolic and molecular bases of inherited disease, McGraw-Hill Medical, New York, 2001, pp. 3421-3452.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufield, E.F.1
Muenzer, J.2
-
2
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle, P.J.; Hopwood, J.J.; Clague, A.E.; Carey, W.F. Prevalence of lysosomal storage disorders. JAMA, 1999, 281, 249-254.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
3
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis, B.J.; Wevers, R.A.; Kleijer, W.J.; Groener, J.E.; Jong, J.G.; Weely, S.L. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet., 1999, 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
Jong, J.G.5
Weely, S.L.6
-
4
-
-
0030818755
-
Selective screening of 10.000 high-risk Brazilian patients for the detection of inborn errors of metabolism
-
Coelho, J.C.; Wajner, M.; Burin, M.G.; Vargas, C.R.; Giugliani, R. Selective screening of 10.000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur. J. Pediatr., 1997, 156, 650-654.
-
(1997)
Eur. J. Pediatr
, vol.156
, pp. 650-654
-
-
Coelho, J.C.1
Wajner, M.2
Burin, M.G.3
Vargas, C.R.4
Giugliani, R.5
-
5
-
-
0034329091
-
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
-
São Paulo
-
Albano, L.M.; Sugayama, S.S.; Bertola, D.R.; Andrade, C.E.; Utagawa, C.Y.; Puppi, F.; Nader, H.B.; Toma, L.; Coelho, J.; Leistner, S. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Rev. Hosp. Clin. Fac. Med. São Paulo, 2000, 55, 213-218.
-
(2000)
Rev. Hosp. Clin. Fac. Med
, vol.55
, pp. 213-218
-
-
Albano, L.M.1
Sugayama, S.S.2
Bertola, D.R.3
Andrade, C.E.4
Utagawa, C.Y.5
Puppi, F.6
Nader, H.B.7
Toma, L.8
Coelho, J.9
Leistner, S.10
-
6
-
-
20144386995
-
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
-
Swiedler, S.J.; Beck, M.; Bajbouj, M.; Giugliani, R.; Schwartz, I.; Harmatz, P.; Wraith, J.E.; Roberts, J.; Ketteridge, D.; Hopwood, J.J. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am. J. Med. Genet., 2005, 134(2),144-150.
-
(2005)
Am. J. Med. Genet
, vol.134
, Issue.2
, pp. 144-150
-
-
Swiedler, S.J.1
Beck, M.2
Bajbouj, M.3
Giugliani, R.4
Schwartz, I.5
Harmatz, P.6
Wraith, J.E.7
Roberts, J.8
Ketteridge, D.9
Hopwood, J.J.10
-
7
-
-
77950658816
-
Mucopolysaccharidosis VI
-
Valayannopoulos, V.; Nicely, H.; Harmatz, P. Mucopolysaccharidosis VI. Orphanet J. Rare Dis., 2010, 5, 5
-
(2010)
Orphanet J. Rare Dis
, vol.5
, pp. 5
-
-
Valayannopoulos, V.1
Nicely, H.2
Harmatz, P.3
-
8
-
-
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
-
9
-
-
4544354475
-
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
-
Azevedo, A.C.; Schwartz, I.V.; Kalakun, L.; Brustolin, S.; Burin, M.G.; Beheregaray, A.P.; Leistner, S.; Giugliani, C.; Rosa, M.; Barrios, P. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin. Genet., 2004, 66, 208-213.
-
(2004)
Clin. Genet
, vol.66
, pp. 208-213
-
-
Azevedo, A.C.1
Schwartz, I.V.2
Kalakun, L.3
Brustolin, S.4
Burin, M.G.5
Beheregaray, A.P.6
Leistner, S.7
Giugliani, C.8
Rosa, M.9
Barrios, P.10
-
10
-
-
33747815417
-
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with se lected inherited lysosomal storage diseases
-
Civallero, G.; Michelin, K.; de M, J.; Viapiana, M.; Burin, M.; Coelho, J.C.; Giugliani, R. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with se lected inherited lysosomal storage diseases. Clin. Chim. Acta, 2006, 372, 98-102
-
(2006)
Clin. Chim. Acta
, vol.372
, pp. 98-102
-
-
Civallero, G.1
Michelin, K.2
De M,, J.3
Viapiana, M.4
Burin, M.5
Coelho, J.C.6
Giugliani, R.7
-
11
-
-
67349280926
-
Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?
-
Pitz, S.; Ogun, O.; Arash, L.; Miebach, E.; Beck, M. Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch. Clin. Exp. Ophtalmol., 2009, 247, 975-980.
-
(2009)
Graefes Arch. Clin. Exp. Ophtalmol
, vol.247
, pp. 975-980
-
-
Pitz, S.1
Ogun, O.2
Arash, L.3
Miebach, E.4
Beck, M.5
-
12
-
-
0027763491
-
Clearing of the para-transplant host cornea afterperforating keratoplasty in Maroteaux-Lamy syndrome (type VI-A Mucopolysaccharidosis)]
-
Naumann, G.O.; Rummelt, V.; Clearing of the para-transplant host cornea afterperforating keratoplasty in Maroteaux-Lamy syndrome (type VI-A Mucopolysaccharidosis)]. Klin Monbl. Augenheilkd, 1993, 203(5),351-360.
-
(1993)
Klin Monbl. Augenheilkd
, vol.203
, Issue.5
, pp. 351-360
-
-
Naumann, G.O.1
Rummelt, V.2
-
13
-
-
62649094547
-
Improved metabolic corretion in patiens with lysosomal storage disease treated with hematopoietic atem cell transplant compared with enzyme replacement therapy
-
Wynn, R.F.; Wraith, J.E.; Meara, J.A.; Tylee, K.; Thornley, M.; Church, H.J.; Bigger, A.B. Improved metabolic corretion in patiens with lysosomal storage disease treated with hematopoietic atem cell transplant compared with enzyme replacement therapy. J. Pediatr, 2009,154, 609-611
-
(2009)
J. Pediatr
, vol.154
, pp. 609-611
-
-
Wynn, R.F.1
Wraith, J.E.2
Meara, J.A.3
Tylee, K.4
Thornley, M.5
Church, H.J.6
Bigger, A.B.7
-
14
-
-
0032941197
-
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III
-
Krivit, W.; Peters, C.; Shapiro, E. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol., 1999, 12, 167-176.
-
(1999)
Curr. Opin. Neurol
, vol.12
, pp. 167-176
-
-
Krivit, W.1
Peters, C.2
Shapiro, E.3
-
15
-
-
0037295890
-
Hematopoietic cell transplantation for inherited metabolic diseases, an overview of outcomes and practice guidelines
-
Peters C.; Steward, C. 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.2
-
16
-
-
33646450545
-
Bone marrow transplantation in patients wiith storage diseases, a developing country experience
-
Lange, M.C.; Teive, H.A.; Troiano, A.R; Bitencourt, M.; Funke,V.A. Bone marrow transplantation in patients wiith storage diseases, a developing country experience. Arq. Neuropsiquiatr, 2006, 64, 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
-
17
-
-
0024309463
-
Ocular changes in the mucopolysaccharidoses after bone marrow transplantation, a preliminary report
-
Summers, C.; Purple, R.; Krivit, W. Ocular changes in the mucopolysaccharidoses after bone marrow transplantation, a preliminary report. Ophthalmology, 1989, 96, 977-985.
-
(1989)
Ophthalmology
, vol.96
, pp. 977-985
-
-
Summers, C.1
Purple, R.2
Krivit, W.3
-
18
-
-
79956265821
-
Long-term follow-up of a girls with Maroteaux-Lamy syndrome after bone marrow transplantation
-
Wang, C.C.; Hwu, W.L.; Lin, K.H. Long-term follow-up of a girls with Maroteaux-Lamy syndrome after bone marrow transplantation. World J. Pediatr, 2001, 4, 234-237
-
(2001)
World J. Pediatr
, vol.4
, pp. 234-237
-
-
Wang, C.C.1
Hwu, W.L.2
Lin, K.H.3
-
19
-
-
1542669902
-
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteux-Lamy syndrome)
-
Harmatz, P.; Whitley, C.B.; Waber, L.; Pais, R.; Steiner, R.; Plecko, B.; Kaplan, P.; Simon, J.; Butensky, E.; Hopwood, J.J. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteux-Lamy syndrome). J. Pediatrics, 2004, 144, 574-580.
-
(2004)
J. Pediatrics
, vol.144
, pp. 574-580
-
-
Harmatz, P.1
Whitley, C.B.2
Waber, L.3
Pais, R.4
Steiner, R.5
Plecko, B.6
Kaplan, P.7
Simon, J.8
Butensky, E.9
Hopwood, J.J.10
-
20
-
-
53849119826
-
Development, validation, and clinical implementation of an assay to measure total antibody response to Naglazyme® (Galsulfase)
-
White J.T.; Martell, L.A.; Van Tuyl, A.; Boyer, R.; Warness, L.; Taniguchi, G.T.; Foehr, E. Development, validation, and clinical implementation of an assay to measure total antibody response to Naglazyme® (Galsulfase). AAPS J., 2008, 10 (2), 363-372
-
(2008)
AAPS J
, vol.10
, Issue.2
, pp. 363-372
-
-
White, J.T.1
Martell, L.A.2
van Tuyl, A.3
Boyer, R.4
Warness, L.5
Taniguchi, G.T.6
Foehr, E.7
-
21
-
-
15844392149
-
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
-
Crawley AC, Brooks DA, Muller VJ, Petersen BA, Isaac EL, Bielicki J, King BM, Boulter CD, Moore AJ, Fazzalari NL, Anson DS, Byers S, Hopwood JJ. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J. Clin. Invest., 1997, 97(8),1864-1873.
-
(1997)
J. Clin. Invest
, vol.97
, Issue.8
, pp. 1864-1873
-
-
Crawley, A.C.1
Brooks, D.A.2
Muller, V.J.3
Petersen, B.A.4
Isaac, E.L.5
Bielicki, J.6
King, B.M.7
Boulter, C.D.8
Moore, A.J.9
Fazzalari, N.L.10
Anson, D.S.11
Byers, S.12
Hopwood, J.J.13
-
22
-
-
33744978567
-
Enzyme replacement therapy for mucopolysaccharidosis VI, a phase 3, randomized, double-blind, placebocontrolled, multinational study of recombinant human Nacetylgalactosamine 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.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Yu, Z.; Wittes, J.; Berger, K.I.; Newman, M.S.; Lowe, A.M.; Kakkis, E.; Swiedler, S.J. Enzyme replacement therapy for mucopolysaccharidosis VI, a phase 3, randomized, double-blind, placebocontrolled, multinational study of recombinant human Nacetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open label extension study. J. Pediatrics, 2006, 148, 533-539e.5
-
(2006)
J. Pediatrics
, vol.148
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.S.6
Wraith, J.E.7
Beck, M.8
Arash, L.9
Scarpa, M.10
Yu, Z.11
Wittes, J.12
Berger, K.I.13
Newman, M.S.14
Lowe, A.M.15
Kakkis, E.16
Swiedler, S.J.17
-
23
-
-
27744493202
-
Direct comparison of measures of endurance, mobility, and joint function during enzyme replacement therapy of mucopolisaccharidosis VI (Maroteaux-Lamy syndrome), results after 48 weeks in a phase 2 open-label clinical study of recombinant human Nacetylgalactosamine 4-sulfatase
-
Harmatz, P.; Ketteridge, D.; Giugliani, R.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Yu, Z.; Swiedler, S.J.; Hopwood, J.J. Direct comparison of measures of endurance, mobility, and joint function during enzyme replacement therapy of mucopolisaccharidosis VI (Maroteaux-Lamy syndrome), results after 48 weeks in a phase 2 open-label clinical study of recombinant human Nacetylgalactosamine 4-sulfatase. Pediatrics, 2005, 115 (6), e681-e689
-
(2005)
Pediatrics
, vol.115
, Issue.6
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.S.6
Yu, Z.7
Swiedler, S.J.8
Hopwood, J.J.9
-
24
-
-
46949093352
-
-
Harmatz, P.; Giugliani, R.; Schwartz, I.V.D.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.J.; Plecko, B.; Steiner, R.; Whitley, C.B.; Kaplan, P.; Yu, Z.; Swiedler, S.J.; Decker, C. 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. Gene. Metabol., 2008, 94, 469-475.
-
(2008)
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
, vol.94
, pp. 469-475
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.V.D.3
Guffon, N.4
Teles, E.L.5
Miranda, M.C.S.6
Wraith, J.E.7
Beck, M.8
Arash, L.9
Scarpa, M.10
Ketteridge, D.11
Hopwood, J.J.12
Plecko, B.13
Steiner, R.14
Whitley, C.B.15
Kaplan, P.16
Yu, Z.17
Swiedler, S.J.18
Decker, C.19
-
25
-
-
77958454803
-
A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), focus on galsulfase
-
El Dib, R.P.; Pastores, G.M. A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), focus on galsulfase. Biolog. Targets Ther., 2009, 3, 459-468.
-
(2009)
Biolog. Targets Ther
, vol.3
, pp. 459-468
-
-
El Dib, R.P.1
Pastores, G.M.2
-
26
-
-
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.; Giugliani, R.; Schwartz, I.V.D.; Guffon, N.; Teles, E.L.; Miranda, M.C.S.; Wraith, J.E.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.J.; Plecko, B.; Steiner, R.; Whitley, C.B.; Kaplan, P.; Swiedler, S.J.; Hardy, K.; Berger, K.I.; Decker, C. Enzyme replacement therapy for mucopolysaccharidosis VI, evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J. Inherited Metabol. Dis., 2010, 33(1), 51-60
-
(2010)
J. Inherited Metabol. Dis
, vol.33
, Issue.1
, pp. 51-60
-
-
Harmatz, P.1
Yu, Z.2
Giugliani, R.3
Schwartz, I.V.D.4
Guffon, N.5
Teles, E.L.6
Miranda, M.C.S.7
Wraith, J.E.8
Beck, M.9
Arash, L.10
Scarpa, M.11
Ketteridge, D.12
Hopwood, J.J.13
Plecko, B.14
Steiner, R.15
Whitley, C.B.16
Kaplan, P.17
Swiedler, S.J.18
Hardy, K.19
Berger, K.I.20
Decker, C.21
more..
-
27
-
-
69049101187
-
Mucopolysaccharidosis VI the Italian experience
-
Scarpa, M.; Barone, R.; Fiumara, A.; Astarita, L.; Parenti, G.; Rampazzo, A.; Sala, S.; Sorge, G.; Parini, R. Mucopolysaccharidosis VI, the Italian experience. Eur. J. Pediatrics, 2009, 168, 1203-1206.
-
(2009)
Eur. J. Pediatrics
, vol.168
, pp. 1203-1206
-
-
Scarpa, M.1
Barone, R.2
Fiumara, A.3
Astarita, L.4
Parenti, G.5
Rampazzo, A.6
Sala, S.7
Sorge, G.8
Parini, R.9
Mucopolysaccharidosis, V.I.10
-
28
-
-
0037343066
-
Replacement therapy in mucoplysaccharidosis type VI, advantages of early onset of therapy
-
Auclair D, Hopwood JJ, Brooks DA, Lemont JF, Crawley AC. Replacement therapy in mucoplysaccharidosis type VI, advantages of early onset of therapy. Mol. Gen. Metabol., 78, 2003, 163-174
-
(2003)
Mol. Gen. Metabol
, vol.78
, pp. 163-174
-
-
Auclair, D.1
Hopwood, J.J.2
Brooks, D.A.3
Lemont, J.F.4
Crawley, A.C.5
-
29
-
-
67349280926
-
Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?
-
Pitz, S.; Ogun, O.; Arash, L.; Miebach, E.; Beck, M. Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis? Graefes Arch. Clin. Exp. Ophtalmol., 2009, 247, 975-980.
-
(2009)
Graefes Arch. Clin. Exp. Ophtalmol
, vol.247
, pp. 975-980
-
-
Pitz, S.1
Ogun, O.2
Arash, L.3
Miebach, E.4
Beck, M.5
-
30
-
-
33745097202
-
Limitations of enzyme replacement therapy, current and future
-
Wraith, J.E. Limitations of enzyme replacement therapy, current and future. J. Inherited Metabol. Dis., 2006, 29, 442-447.
-
(2006)
J. Inherited Metabol. Dis
, vol.29
, pp. 442-447
-
-
Wraith, J.E.1
-
31
-
-
67649411650
-
Expensive drugs for rare disorders, to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI
-
Schlander, M.; Beck, M. Expensive drugs for rare disorders, to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. Curr. Med. Res. Opin., 2009, 25(5), 1285-1293.
-
(2009)
Curr. Med. Res. Opin
, vol.25
, Issue.5
, pp. 1285-1293
-
-
Schlander, M.1
Beck, M.2
-
32
-
-
73749084892
-
Repeated intrathecal injections of recombinant human-4-sulphatase remove dural storage in mature mucopplysaccharidosis VI cats primed with a shortcourse tolerisation regimen
-
Auclair, D.; Finnie, J.; White, J.; Nielsen, T.; Fuller, M.; Kakkis, E.; Cheng, A.; O'Neil, C.A.; Hopwood, J.J. Repeated intrathecal injections of recombinant human-4-sulphatase remove dural storage in mature mucopplysaccharidosis VI cats primed with a shortcourse tolerisation regimen. Mol. Genet. Metabol., 2010, 99, 132-141
-
(2010)
Mol. Genet. Metabol
, vol.99
, pp. 132-141
-
-
Auclair, D.1
Finnie, J.2
White, J.3
Nielsen, T.4
Fuller, M.5
Kakkis, E.6
Cheng, A.7
ÓNeil, C.A.8
Hopwood, J.J.9
-
33
-
-
77649340784
-
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis
-
Muñoz-Rojas, M.V.; Horovitz, D.D.G.; Jardim, L.B.; Raymundo, M.; Llerena Jr., J.C.; de Magalhães, T.S.C.P.; Vieira, T.A.; Costa, R.; Kakkis, E.; Giugliani, R. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol. Genet. Metabol., 2010, 99(4), 346-350.
-
(2010)
Mol. Genet. Metabol
, vol.99
, Issue.4
, pp. 346-350
-
-
Muñoz-Rojas, M.V.1
Horovitz, D.D.G.2
Jardim, L.B.3
Raymundo, M.4
Llerena, J.C.5
de Magalhães, T.S.C.P.6
Vieira, T.A.7
Costa, R.8
Kakkis, E.9
Giugliani, R.10
-
34
-
-
34447266922
-
Long-term intra-articular administration of recombinant human Nacetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI
-
Auclair, D.; Hopwood, J.J.; Lemontt, J.F.; Chen, L.; Byers, S. Long-term intra-articular administration of recombinant human Nacetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI. Mol. Gene. Metabol., 2007, 91, 352-361.
-
(2007)
Mol. Gene. Metabol
, vol.91
, pp. 352-361
-
-
Auclair, D.1
Hopwood, J.J.2
Lemontt, J.F.3
Chen, L.4
Byers, S.5
-
35
-
-
77953049350
-
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age -a sibling control study
-
McGill, J.J.; Inwood, A.C.; Coman, D.J.; Lipke, M.L.; de Lore, D.; Swiedler, S.J.; Hopwood, J.J. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age -a sibling control study. Clin. Genetics, 2009, 77(5),492-498
-
(2009)
Clin. Genetics
, vol.77
, Issue.5
, pp. 492-498
-
-
McGill, J.J.1
Inwood, A.C.2
Coman, D.J.3
Lipke, M.L.4
de Lore, D.5
Swiedler, S.J.6
Hopwood, J.J.7
-
36
-
-
33745279635
-
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidosis
-
Piotrowska, E.; Jakóbkiewicz-Banecka, J.; Baranska, S.; Tylki-Szymanska, A.; Czartoryska, B.; Wegrzyn, A.; Wegrzyn, G. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidosis. Eur. J. Hum. Genet., 2006, 14, 846-852.
-
(2006)
Eur. J. Hum. Genet
, vol.14
, pp. 846-852
-
-
Piotrowska, E.1
Jakóbkiewicz-Banecka, J.2
Baranska, S.3
Tylki-Szymanska, A.4
Czartoryska, B.5
Wegrzyn, A.6
Wegrzyn, G.7
-
37
-
-
76249093889
-
Involvement of the toll-like receptor 4 pathway and use of TNF-α antagonists for treatment of the mucopolysaccharidoses
-
Simonaro, C.; Ge, Y.; Eliyahu, E.; He, K.; Jepsen, K.; Schuchman, E. Involvement of the toll-like receptor 4 pathway and use of TNF-α antagonists for treatment of the mucopolysaccharidoses. Proc. Natl. Acad. Sci. USA, 2010, 107, 1 222-1227
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, Issue.1
, pp. 222-1227
-
-
Simonaro, C.1
Ge, Y.2
Eliyahu, E.3
He, K.4
Jepsen, K.5
Schuchman, E.6
-
38
-
-
0032928367
-
Regulation of N-acetylgalactosamine 4- sulfatase expression in retrovirus transduced feline mucopolysaccharidosis type VI muscle cells
-
Yogalingan, G.; Muller, V.; Hopwood, J.J.; Anson, D.S. Regulation of N-acetylgalactosamine 4- sulfatase expression in retrovirus transduced feline mucopolysaccharidosis type VI muscle cells. DNA Cell. Biol., 1999, 18, 187-195
-
(1999)
DNA Cell. Biol
, vol.18
, pp. 187-195
-
-
Yogalingan, G.1
Muller, V.2
Hopwood, J.J.3
Anson, D.S.4
-
39
-
-
37549000936
-
Biochemical, pathological and skeletal improvement of mucopolysacharidosis VI after gene transfer to liver but not to muscle
-
Tessitore, A.; Faella, A.; ÓMalley, T.; Cotugno, G.; Doria, M.; Kunieda, T.; Matarese, G.; Haskins, M.; Auricchio, A. Biochemical, pathological and skeletal improvement of mucopolysacharidosis VI after gene transfer to liver but not to muscle. Mol. Ther., 2008, 16(1), 30-37
-
(2008)
Mol. Ther
, vol.16
, Issue.1
, pp. 30-37
-
-
Tessitore, A.1
Faella, A.2
ÓMalley, T.3
Cotugno, G.4
Doria, M.5
Kunieda, T.6
Matarese, G.7
Haskins, M.8
Auricchio, A.9
-
40
-
-
67349085064
-
Lentivitalmediated correction of MPS VI cells and gene transfers to joint tissues
-
Byers, S.; Rothe, M.; Lalic, J.; Koldej, R.; Ansons, D.S. Lentivitalmediated correction of MPS VI cells and gene transfers to joint tissues. Mol. Genet. Metabol., 97 2009, 102-109
-
(2009)
Mol. Genet. Metabol
, vol.97
, pp. 102-109
-
-
Byers, S.1
Rothe, M.2
Lalic, J.3
Koldej, R.4
Ansons, D.S.5
-
41
-
-
76249099881
-
Alberto Auricchio Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI
-
Alessandra Tessitore, Marinella Pirozzi1, Alberto Auricchio Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics, 2009, 2(1), 41-52
-
(2009)
Pathogenetics
, vol.2
, Issue.1
, pp. 41-52
-
-
Tessitore, A.1
Pirozzi, M.2
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