-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease 2001, 3421. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
52949116848
-
The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
-
Moore D., Connock M.J., Wraith E., Lavery C. The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J. Rare Dis. Sep 16 2008, 3:24.
-
(2008)
Orphanet J. Rare Dis.
, vol.3
, pp. 24
-
-
Moore, D.1
Connock, M.J.2
Wraith, E.3
Lavery, C.4
-
3
-
-
77953467194
-
Orthopedic management of mucopolysaccharide disease
-
White K.K., Harmatz P. Orthopedic management of mucopolysaccharide disease. J. Pediatr. Rehabil. Med. 2010, 3:47-56.
-
(2010)
J. Pediatr. Rehabil. Med.
, vol.3
, pp. 47-56
-
-
White, K.K.1
Harmatz, P.2
-
4
-
-
84855590904
-
Orthopaedic aspects of mucopolysaccharidoses
-
White K.K. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl. 5):v26-v33.
-
(2011)
Rheumatology (Oxford)
, vol.50
, Issue.SUPPL. 5
-
-
White, K.K.1
-
5
-
-
0029828768
-
Hip 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., Forgarty E.E. Hip dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation. J. Pediatr. Orthop. 1996, 16:731-733.
-
(1996)
J. Pediatr. Orthop.
, 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
Forgarty, E.E.6
-
6
-
-
0028032831
-
Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development
-
Field R.E., Buchanan J.A., Copplemans M.G., Aichroth R.W. Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development. J. Bone Joint Surg. Br. 1994, 76:975-981.
-
(1994)
J. Bone Joint Surg. Br.
, vol.76
, pp. 975-981
-
-
Field, R.E.1
Buchanan, J.A.2
Copplemans, M.G.3
Aichroth, R.W.4
-
7
-
-
41849100362
-
Mobility in Hurler syndrome
-
Taylor C., Brady P., O'Meara A., Moore D., Dowling F., Fogarty E. Mobility in Hurler syndrome. J. Pediatr. Orthop. 2008, 28:163-168.
-
(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
-
8
-
-
0347419495
-
Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation
-
Weisstein J.S., Delgado E., Steinbach L.S., Hart K., Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J. Pediatr. Orthop. 2004, 24:97-101.
-
(2004)
J. Pediatr. Orthop.
, vol.24
, pp. 97-101
-
-
Weisstein, J.S.1
Delgado, E.2
Steinbach, L.S.3
Hart, K.4
Packman, S.5
-
9
-
-
33947615114
-
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease
-
Montano A.M., Tomatsu S., Gottesman G.S., Smith M., Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J. Inherit. Metab. Dis. 2007, 30:165-174.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 165-174
-
-
Montano, A.M.1
Tomatsu, S.2
Gottesman, G.S.3
Smith, M.4
Orii, T.5
-
10
-
-
77950658816
-
Mucopolysaccharidosis VI
-
Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet J. Rare Dis. 2010, 5(5):1-20.
-
(2010)
Orphanet J. Rare Dis.
, vol.5
, Issue.5
, pp. 1-20
-
-
Valayannopoulos, V.1
Nicely, H.2
Harmatz, P.3
Turbeville, S.4
-
11
-
-
71949110878
-
Multidisciplinary management of Hunter syndrome
-
Muenzer J., Beck M., Eng C.M., Escolar M.L., Giugliani R., Guffon N.H., Harmatz P., Kamin W., Kampmann C., Koseoglu S.T., Link B., Martin R.A., Molter D.W., Muñoz Rojas M.V., Ogilvie J.W., Parini R., Ramaswami U., Scarpa M., Schwartz I.V., Wood R.E., Wraith E. Multidisciplinary management of Hunter syndrome. Pediatrics 2009, 124:e1228-e1239.
-
(2009)
Pediatrics
, vol.124
-
-
Muenzer, J.1
Beck, M.2
Eng, C.M.3
Escolar, M.L.4
Giugliani, R.5
Guffon, N.H.6
Harmatz, P.7
Kamin, W.8
Kampmann, C.9
Koseoglu, S.T.10
Link, B.11
Martin, R.A.12
Molter, D.W.13
Muñoz Rojas, M.V.14
Ogilvie, J.W.15
Parini, R.16
Ramaswami, U.17
Scarpa, M.18
Schwartz, I.V.19
Wood, R.E.20
Wraith, E.21
more..
-
12
-
-
79958827078
-
Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III)
-
White K.K., Karol L.A., White D.R., Hale S. Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III). J. Pediatr. Orthop. 2011, 31:594-598.
-
(2011)
J. Pediatr. Orthop.
, vol.31
, pp. 594-598
-
-
White, K.K.1
Karol, L.A.2
White, D.R.3
Hale, S.4
-
13
-
-
67349262798
-
Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry
-
Arn P., Wraith J.E., Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J. Pediatr. 2009, 154(859-864):e853.
-
(2009)
J. Pediatr.
, vol.154
, Issue.859-864
-
-
Arn, P.1
Wraith, J.E.2
Underhill, L.3
-
14
-
-
0015582263
-
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis
-
Sly W.S., Quinton B.A., McAlister W.H., Rimoin D.L. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J. Pediatr. 1973, 82:249-257.
-
(1973)
J. Pediatr.
, vol.82
, pp. 249-257
-
-
Sly, W.S.1
Quinton, B.A.2
McAlister, W.H.3
Rimoin, D.L.4
-
15
-
-
84886636844
-
Variation in the phenotypic expression of beta-glucuronidase deficiency
-
Beaudet A.L., DiFerrante N.M., Ferry G.D., Nichols B.L., Mullins C.E. Variation in the phenotypic expression of beta-glucuronidase deficiency. J. Pediatr. 1975, 86:388-394.
-
(1975)
J. Pediatr.
, vol.86
, pp. 388-394
-
-
Beaudet, A.L.1
DiFerrante, N.M.2
Ferry, G.D.3
Nichols, B.L.4
Mullins, C.E.5
-
16
-
-
0028186727
-
Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency
-
Vogler C., Levy B., Kyle J.W., Sly W.S., Williamson J., Whyte M.P. Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency. Mod. Pathol. 1994, 7:132-137.
-
(1994)
Mod. Pathol.
, vol.7
, pp. 132-137
-
-
Vogler, C.1
Levy, B.2
Kyle, J.W.3
Sly, W.S.4
Williamson, J.5
Whyte, M.P.6
-
17
-
-
0026641461
-
Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia
-
de Kremer R.D., Givogri I., Argarana C.E., Hliba E., Conci R., Boldini C.D., Capra A.P. Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia. Am. J. Med. Genet. 1992, 44:145-152.
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 145-152
-
-
de Kremer, R.D.1
Givogri, I.2
Argarana, C.E.3
Hliba, E.4
Conci, R.5
Boldini, C.D.6
Capra, A.P.7
-
18
-
-
84866155359
-
Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII
-
Smith L.J., Baldo G., Wu S., Liu Y., Whyte M.P., Giugliani R., Elliott D.M., Haskins M.E., Ponder K.P. Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII. Mol. Genet. Metab. 2012, 107:153-160.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 153-160
-
-
Smith, L.J.1
Baldo, G.2
Wu, S.3
Liu, Y.4
Whyte, M.P.5
Giugliani, R.6
Elliott, D.M.7
Haskins, M.E.8
Ponder, K.P.9
-
19
-
-
84878502390
-
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII
-
Rowan D.J., Tomatsu S., Grubb J.H., Montaño A.M., Sly W.S. Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. J. Inherit. Metab. Dis. 2013, 36:235-246.
-
(2013)
J. Inherit. Metab. Dis.
, vol.36
, pp. 235-246
-
-
Rowan, D.J.1
Tomatsu, S.2
Grubb, J.H.3
Montaño, A.M.4
Sly, W.S.5
-
20
-
-
0026472771
-
Stress fracture of the femoral neck in a young adult with Maroteaux-Lamy syndrome
-
Guiral J., Sanchez J.M., Gonzalez M.A. Stress fracture of the femoral neck in a young adult with Maroteaux-Lamy syndrome. Acta Orthop. Belg. 1992, 58:91-92.
-
(1992)
Acta Orthop. Belg.
, vol.58
, pp. 91-92
-
-
Guiral, J.1
Sanchez, J.M.2
Gonzalez, M.A.3
-
21
-
-
84856061977
-
Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report
-
Baz A.B., Akalin S., Arik H., Ergün A. Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report. Acta Orthop. Traumatol. Turc. 2011, 45:466-469.
-
(2011)
Acta Orthop. Traumatol. Turc.
, vol.45
, pp. 466-469
-
-
Baz, A.B.1
Akalin, S.2
Arik, H.3
Ergün, A.4
-
22
-
-
82255175888
-
Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation
-
Baldo G., Wu S., Howe R.A., Ramamoothy M., Knutsen R.H., Fang J., Mecham R.P., Liu Y., Wu X., Atkinson J.P., Ponder K.P. Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation. Mol. Genet. Metab. 2011, 104:608-619.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 608-619
-
-
Baldo, G.1
Wu, S.2
Howe, R.A.3
Ramamoothy, M.4
Knutsen, R.H.5
Fang, J.6
Mecham, R.P.7
Liu, Y.8
Wu, X.9
Atkinson, J.P.10
Ponder, K.P.11
-
23
-
-
77954651674
-
Cartilage and chondrocyte pathology in the mucopolysaccharidoses: the role of glycosaminoglycan-mediated inflammation
-
Simonaro C.M. Cartilage and chondrocyte pathology in the mucopolysaccharidoses: the role of glycosaminoglycan-mediated inflammation. J. Pediatr. Rehabil. Med. 2010, 3:85-88.
-
(2010)
J. Pediatr. Rehabil. Med.
, vol.3
, pp. 85-88
-
-
Simonaro, C.M.1
-
24
-
-
17744378748
-
Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models
-
Simonaro C.M., D'Angelo M., Haskins M.E., Schuchman E.H. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 2005, 57:701-707.
-
(2005)
Pediatr. Res.
, vol.57
, pp. 701-707
-
-
Simonaro, C.M.1
D'Angelo, M.2
Haskins, M.E.3
Schuchman, E.H.4
-
25
-
-
48449103907
-
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice
-
Ausseil J., Desmaris N., Bigou S., Attali R., Corbineau S., Vitry S., Parent M., Cheillan D., Fuller M., Maire I., Vanier M.T., Heard J.M. Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. PLoS One 2008, 3:e2296.
-
(2008)
PLoS One
, vol.3
-
-
Ausseil, J.1
Desmaris, N.2
Bigou, S.3
Attali, R.4
Corbineau, S.5
Vitry, S.6
Parent, M.7
Cheillan, D.8
Fuller, M.9
Maire, I.10
Vanier, M.T.11
Heard, J.M.12
-
26
-
-
38749093729
-
Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases
-
Simonaro C.M., D'Angelo M., He X., Eliyahu E., Shtraizent N., Haskins M.E., Schuchman E.H. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol. 2008, 172:112-122.
-
(2008)
Am. J. Pathol.
, vol.172
, pp. 112-122
-
-
Simonaro, C.M.1
D'Angelo, M.2
He, X.3
Eliyahu, E.4
Shtraizent, N.5
Haskins, M.E.6
Schuchman, E.H.7
-
27
-
-
0037094084
-
Receptor-mediated monitoring of tissue well-being via detection of soluble heparan sulfate by Toll-like receptor 4
-
Johnson G.B., Brunn G.J., Kodaira Y., Platt J.L. Receptor-mediated monitoring of tissue well-being via detection of soluble heparan sulfate by Toll-like receptor 4. J. Immunol. 2002, 168:5233-5239.
-
(2002)
J. Immunol.
, vol.168
, pp. 5233-5239
-
-
Johnson, G.B.1
Brunn, G.J.2
Kodaira, Y.3
Platt, J.L.4
-
28
-
-
84874666015
-
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
-
Lai A., Simonaro C.M., Schuchman E.H., Ge Y., Laudier D.M., Iatridis J.C. Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). J. Orthop. Res. 2013, 31:621-631.
-
(2013)
J. Orthop. Res.
, vol.31
, pp. 621-631
-
-
Lai, A.1
Simonaro, C.M.2
Schuchman, E.H.3
Ge, Y.4
Laudier, D.M.5
Iatridis, J.C.6
-
29
-
-
77649338053
-
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression
-
Metcalf J.A., Linders B., Wu S., Bigg P., O'Donnell P., Sleeper M.M., Whyte M.P., Haskins M., Ponder K.P. Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol. Genet. Metab. 2010, 99:396-407.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 396-407
-
-
Metcalf, J.A.1
Linders, B.2
Wu, S.3
Bigg, P.4
O'Donnell, P.5
Sleeper, M.M.6
Whyte, M.P.7
Haskins, M.8
Ponder, K.P.9
-
30
-
-
76249093889
-
Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses
-
Simonaro C.M., Ge Y., Eliyahu E., He X., Jepsen K.J., Schuchman E.H. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:222-227.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 222-227
-
-
Simonaro, C.M.1
Ge, Y.2
Eliyahu, E.3
He, X.4
Jepsen, K.J.5
Schuchman, E.H.6
-
31
-
-
77949801547
-
Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII
-
Smith L.J., Martin J.T., Szczesny S.E., Ponder K.P., Haskins M.E., Elliott D.M. Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII. J. Orthop. Res. 2010, 28:616-622.
-
(2010)
J. Orthop. Res.
, vol.28
, pp. 616-622
-
-
Smith, L.J.1
Martin, J.T.2
Szczesny, S.E.3
Ponder, K.P.4
Haskins, M.E.5
Elliott, D.M.6
-
33
-
-
77950586398
-
Therapy for lysosomal storage disorders
-
Beck M. Therapy for lysosomal storage disorders. IUBMB Life 2010, 62:33-40.
-
(2010)
IUBMB Life
, vol.62
, pp. 33-40
-
-
Beck, M.1
-
34
-
-
79959786221
-
Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review
-
van der Linden M.H., Kruyt M.C., Sakkers R.J., de Koning T.J., Oner F.C., Castelein R.M. Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review. J. Inherit. Metab. Dis. 2011, 34:657-669.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 657-669
-
-
van der Linden, M.H.1
Kruyt, M.C.2
Sakkers, R.J.3
de Koning, T.J.4
Oner, F.C.5
Castelein, R.M.6
-
35
-
-
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, 90:171-180.
-
(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
Okazaki, S.7
Huff, K.8
Cox, G.F.9
Swiedler, S.J.10
Kakkis, E.D.11
-
36
-
-
77954629992
-
Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes
-
White K.K., Hale S., Goldberg M.J. Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes. J. Pediatr. Rehabil. Med. 2010, 3:101-107.
-
(2010)
J. Pediatr. Rehabil. Med.
, vol.3
, pp. 101-107
-
-
White, K.K.1
Hale, S.2
Goldberg, M.J.3
-
37
-
-
46949093352
-
MPS VI study group, 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., 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.F., Swiedler S.J., Decker C. MPS VI study group, 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
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.F.17
Swiedler, S.J.18
Decker, C.19
-
38
-
-
82255179466
-
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI
-
Furujo M., Kubo T., Kosuga M., Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol. Genet. Metab. 2011, 104:597-602.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 597-602
-
-
Furujo, M.1
Kubo, T.2
Kosuga, M.3
Okuyama, T.4
-
39
-
-
77953049350
-
Enzyme replacement therapy for mucopolysaccharidosis VI from 8weeks 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 8weeks of age - a sibling control study. Clin. Genet. 2010, 77:492-498.
-
(2010)
Clin. Genet.
, vol.77
, 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
-
41
-
-
0036168867
-
Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs
-
Xu L., Haskins M.E., Melniczek J.R., Gao C., Weil M.A., O'Malley T.M., O'Donnell P.A., Mazrier H., Ellinwood N.M., Zweigle J., Wolfe J.H., Ponder K.P. Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. Mol. Ther. 2002, 5:141-153.
-
(2002)
Mol. Ther.
, vol.5
, pp. 141-153
-
-
Xu, L.1
Haskins, M.E.2
Melniczek, J.R.3
Gao, C.4
Weil, M.A.5
O'Malley, T.M.6
O'Donnell, P.A.7
Mazrier, H.8
Ellinwood, N.M.9
Zweigle, J.10
Wolfe, J.H.11
Ponder, K.P.12
-
42
-
-
0036792035
-
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs
-
Ponder K.P., Melniczek J.R., Xu L., Weil M.A., O'Malley T.M., O'Donnell P.A., Knox V.W., Aguirre G.D., Mazrier H., Ellinwood N.M., Sleeper M., Maguire A.M., Volk S.W., Mango R.L., Zweigle J., Wolfe J.H., Haskins M.E. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc. Natl. Acad. Sci. U. S. A. 2002, 99:13102-13107.
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 13102-13107
-
-
Ponder, K.P.1
Melniczek, J.R.2
Xu, L.3
Weil, M.A.4
O'Malley, T.M.5
O'Donnell, P.A.6
Knox, V.W.7
Aguirre, G.D.8
Mazrier, H.9
Ellinwood, N.M.10
Sleeper, M.11
Maguire, A.M.12
Volk, S.W.13
Mango, R.L.14
Zweigle, J.15
Wolfe, J.H.16
Haskins, M.E.17
-
43
-
-
53749102830
-
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy
-
Herati R.S., Knox V.W., O'Donnell P., D'Angelo M., Haskins M.E., Ponder K.P. Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol. Genet. Metab. 2008, 95:142-151.
-
(2008)
Mol. Genet. Metab.
, vol.95
, pp. 142-151
-
-
Herati, R.S.1
Knox, V.W.2
O'Donnell, P.3
D'Angelo, M.4
Haskins, M.E.5
Ponder, K.P.6
-
44
-
-
1942521291
-
Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs
-
Mango R.L., Xu L., Sands M.S., Vogler C., Seiler G., Schwarz T., Haskins M.E., Ponder K.P. Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. Mol. Genet. Metab. 2004, 82:4-19.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 4-19
-
-
Mango, R.L.1
Xu, L.2
Sands, M.S.3
Vogler, C.4
Seiler, G.5
Schwarz, T.6
Haskins, M.E.7
Ponder, K.P.8
-
45
-
-
84866146782
-
Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs
-
Smith L.J., Martin J.T., O'Donnell P., Wang P., Elliott D.M., Haskins M.E., Ponder K.P. Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs. Mol. Genet. Metab. 2012, 107:145-152.
-
(2012)
Mol. Genet. Metab.
, vol.107
, pp. 145-152
-
-
Smith, L.J.1
Martin, J.T.2
O'Donnell, P.3
Wang, P.4
Elliott, D.M.5
Haskins, M.E.6
Ponder, K.P.7
-
46
-
-
34547101208
-
Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy
-
Traas A.M., Wang P., Ma X., Tittiger M., Schaller L., O'donnell P., Sleeper M.M., Vite C., Herati R., Aguirre G.D., Haskins M., Ponder K.P. Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol. Ther. 2007, 15:1423-1431.
-
(2007)
Mol. Ther.
, vol.15
, pp. 1423-1431
-
-
Traas, A.M.1
Wang, P.2
Ma, X.3
Tittiger, M.4
Schaller, L.5
O'donnell, P.6
Sleeper, M.M.7
Vite, C.8
Herati, R.9
Aguirre, G.D.10
Haskins, M.11
Ponder, K.P.12
-
47
-
-
84862804825
-
Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats
-
Ponder K.P., O'Malley T.M., Wang P., O'Donnell P.A., Traas A.M., Knox V.W., Aguirre G.A., Ellinwood N.M., Metcalf J.A., Wang B., Parkinson-Lawrence E.J., Sleeper M.M., Brooks D.A., Hopwood J.J., Haskins M.E. Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats. Mol. Ther. 2012, 20:898-907.
-
(2012)
Mol. Ther.
, vol.20
, pp. 898-907
-
-
Ponder, K.P.1
O'Malley, T.M.2
Wang, P.3
O'Donnell, P.A.4
Traas, A.M.5
Knox, V.W.6
Aguirre, G.A.7
Ellinwood, N.M.8
Metcalf, J.A.9
Wang, B.10
Parkinson-Lawrence, E.J.11
Sleeper, M.M.12
Brooks, D.A.13
Hopwood, J.J.14
Haskins, M.E.15
-
48
-
-
0142062686
-
Animal models for mucopolysaccharidoses and their clinical relevance
-
Haskins M., Casal M., Ellinwood N.M., Melniczek J., Mazrier H., Giger U. Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr. Suppl. 2002, 91:88-97.
-
(2002)
Acta Paediatr. Suppl.
, vol.91
, pp. 88-97
-
-
Haskins, M.1
Casal, M.2
Ellinwood, N.M.3
Melniczek, J.4
Mazrier, H.5
Giger, U.6
-
49
-
-
0021213609
-
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII
-
Haskins M.E., Desnick R.J., DiFerrante N., Jezyk P.F., Patterson D.F. Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr. Res. 1984, 18:980-984.
-
(1984)
Pediatr. Res.
, vol.18
, pp. 980-984
-
-
Haskins, M.E.1
Desnick, R.J.2
DiFerrante, N.3
Jezyk, P.F.4
Patterson, D.F.5
-
50
-
-
0032950958
-
Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII
-
Ray J., Scarpino V., Laing C., Haskins M.E. Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII. J. Hered. 1999, 90:119-123.
-
(1999)
J. Hered.
, vol.90
, pp. 119-123
-
-
Ray, J.1
Scarpino, V.2
Laing, C.3
Haskins, M.E.4
-
51
-
-
35648962500
-
Cysteine and serine proteases of synovial tissue in rheumatoid arthritis and osteoarthritis
-
Solau-Gervais E., Zerimech F., Lemaire R., Fontaine C., Huet G., Flipo R.M. Cysteine and serine proteases of synovial tissue in rheumatoid arthritis and osteoarthritis. Scand. J. Rheumatol. 2007, 36:373-377.
-
(2007)
Scand. J. Rheumatol.
, vol.36
, pp. 373-377
-
-
Solau-Gervais, E.1
Zerimech, F.2
Lemaire, R.3
Fontaine, C.4
Huet, G.5
Flipo, R.M.6
-
52
-
-
79959691939
-
Serum cysteine proteases and their inhibitors in rheumatoid arthritis: relation to disease activity and radiographic progression
-
Jorgensen I., Kos J., Krasovec M., Troelsen L., Klarlund M., Jensen T.W., Hansen M.S., Jacobsen S. Serum cysteine proteases and their inhibitors in rheumatoid arthritis: relation to disease activity and radiographic progression. Clin. Rheumatol. 2011, 30:633-638.
-
(2011)
Clin. Rheumatol.
, vol.30
, pp. 633-638
-
-
Jorgensen, I.1
Kos, J.2
Krasovec, M.3
Troelsen, L.4
Klarlund, M.5
Jensen, T.W.6
Hansen, M.S.7
Jacobsen, S.8
-
53
-
-
80051940065
-
Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI
-
Eliyahu E., Wolfson T., Ge Y., Jepsen H.J., Schuchman E.H., Simonaro C.M. Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. PLoS One 2011, 6:e22447.
-
(2011)
PLoS One
, vol.6
-
-
Eliyahu, E.1
Wolfson, T.2
Ge, Y.3
Jepsen, H.J.4
Schuchman, E.H.5
Simonaro, C.M.6
-
54
-
-
0032211766
-
Cathepsin B: an alternative protease for the generation of an aggrecan 'metalloproteinase' cleavage neoepitope
-
Mort J.S., Magny M.C., Lee E.R. Cathepsin B: an alternative protease for the generation of an aggrecan 'metalloproteinase' cleavage neoepitope. Biochem. J. 1998, 335:491-494.
-
(1998)
Biochem. J.
, vol.335
, pp. 491-494
-
-
Mort, J.S.1
Magny, M.C.2
Lee, E.R.3
-
55
-
-
0026701977
-
The interglobular domain of cartilage aggrecan is cleaved by PUMP, gelatinases, and cathepsin B
-
Fosang A.J., Neame P.J., Last K., Hardingham T.E., Murphy G., Hamilton J.A. The interglobular domain of cartilage aggrecan is cleaved by PUMP, gelatinases, and cathepsin B. J. Biol. Chem. 1992, 267:19470-19474.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 19470-19474
-
-
Fosang, A.J.1
Neame, P.J.2
Last, K.3
Hardingham, T.E.4
Murphy, G.5
Hamilton, J.A.6
-
56
-
-
76049108551
-
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans
-
Stattin E.L., Wiklund F., Lindblom K., Onnerfjord P., Jonsson B.A., Tegner Y., Sasaki T., Struglics A., Lohmander S., Dahl N., Heinegård D., Aspberg A.A. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am. J. Hum. Genet. 2010, 86:126-137.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 126-137
-
-
Stattin, E.L.1
Wiklund, F.2
Lindblom, K.3
Onnerfjord, P.4
Jonsson, B.A.5
Tegner, Y.6
Sasaki, T.7
Struglics, A.8
Lohmander, S.9
Dahl, N.10
Heinegård, D.11
Aspberg, A.A.12
-
57
-
-
0037344452
-
Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII
-
Kamata Y., Tanabe A., Kanaji A., Kosuga M., Fukuhara Y., Li X.K., Suzuki S., Yamada M., Azuma N., Okuyama T. Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. Gene Ther. 2003, 10:406-414.
-
(2003)
Gene Ther.
, vol.10
, pp. 406-414
-
-
Kamata, Y.1
Tanabe, A.2
Kanaji, A.3
Kosuga, M.4
Fukuhara, Y.5
Li, X.K.6
Suzuki, S.7
Yamada, M.8
Azuma, N.9
Okuyama, T.10
-
58
-
-
0034824239
-
Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer
-
Daly T.M., Ohlemiller K.K., Roberts M.S., Vogler C.A., Sands M.S. Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther. 2001, 8:1291-1298.
-
(2001)
Gene Ther.
, vol.8
, pp. 1291-1298
-
-
Daly, T.M.1
Ohlemiller, K.K.2
Roberts, M.S.3
Vogler, C.A.4
Sands, M.S.5
-
59
-
-
84860918301
-
Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII
-
Macsai C.E., Derrick-Roberts A.L., Ding X., Zarrinkalam K.H., McIntyre C., Anderson P.H., Anson S.D., Byers S. Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII. Mol. Genet. Metab. 2012, 106:202-213.
-
(2012)
Mol. Genet. Metab.
, vol.106
, pp. 202-213
-
-
Macsai, C.E.1
Derrick-Roberts, A.L.2
Ding, X.3
Zarrinkalam, K.H.4
McIntyre, C.5
Anderson, P.H.6
Anson, S.D.7
Byers, S.8
-
60
-
-
84255196304
-
Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity
-
Wu C., Dunbar C.E. Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity. Front. Med. 2011, 5:356-371.
-
(2011)
Front. Med.
, vol.5
, pp. 356-371
-
-
Wu, C.1
Dunbar, C.E.2
|