-
1
-
-
0001509153
-
A new dysostosis with urinary elimination of chondroitin sulfate B
-
Maroteaux P, Leveque B, Marie J, Lamy M. A new dysostosis with urinary elimination of chondroitin sulfate B. Presse Med 1963;71:1849-52
-
(1963)
Presse Med
, vol.71
, pp. 1849-1852
-
-
Maroteaux, P.1
Leveque, B.2
Marie, J.3
Lamy, M.4
-
2
-
-
0024573535
-
Chromosomal localization of ARSB, the gene for human N- Acetylgalactosamine-4-sulphatase
-
Litjens T, Baker EG, Beckmann KR, et al. Chromosomal localization of ARSB, the gene for human N-Acetylgalactosamine-4-sulphatase. Hum Genet 1989;82:67-8
-
(1989)
Hum Genet
, vol.82
, pp. 67-68
-
-
Litjens, T.1
Baker, E.G.2
Beckmann, K.R.3
-
4
-
-
1542669902
-
Enzyme replacement therapy in mucopolysaccharidosis vi (maroteaux-lamy syndrome
-
Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 2004;144:574-80
-
(2004)
J Pediatr
, vol.144
, pp. 574-580
-
-
Harmatz, P.1
Whitley, C.B.2
Waber, L.3
-
5
-
-
77953049350
-
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-A sibling control study
-
McGill JJ, Inwood AC, Coman DJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-A sibling control study. Clin Genet 2009;77(5):492-8
-
(2009)
Clin Genet
, vol.77
, Issue.5
, pp. 492-498
-
-
McGill, J.J.1
Inwood, A.C.2
Coman, D.J.3
-
6
-
-
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(4):597-602
-
(2011)
Mol Genet Metab
, vol.104
, Issue.4
, pp. 597-602
-
-
Furujo, M.1
Kubo, T.2
Kosuga, M.3
Okuyama, T.4
-
7
-
-
84876092083
-
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with mps vi
-
Horovitz DDG, Magalhaes TSPC, Acosta A, et al. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol Genet Metab 2013;109(1):62-9
-
(2013)
Mol Genet Metab
, vol.109
, Issue.1
, pp. 62-69
-
-
Horovitz, D.D.G.1
Magalhaes, T.S.P.C.2
Acosta, A.3
-
8
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with hurler syndrome
-
Peters C, Balthazor M, Shapiro E, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996;87:4894-902
-
(1996)
Blood
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.3
-
9
-
-
77951687440
-
Long-Term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation
-
Wang C, Hwu W, Lin K. Long-Term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation. World J Pediatr 2008;4:152-4
-
(2008)
World J Pediatr
, vol.4
, pp. 152-154
-
-
Wang, C.1
Hwu, W.2
Lin, K.3
-
10
-
-
0032988760
-
Bone marrow transplantation for maroteaux-lamy syndrome (mps vi): Long-Term follow-up
-
Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): Long-Term follow-up. J Inherit Metab Dis 1999;22:50-6
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 50-56
-
-
Herskhovitz, E.1
Young, E.2
Rainer, J.3
-
11
-
-
78651426962
-
Clinical outcomes following hematopoietic stem cell transplantation for the treatment ofmucopolysaccharidosis vi
-
Turbeville S, Nicely H, Rizzo JD, et al. Clinical outcomes following hematopoietic stem cell transplantation for the treatment ofmucopolysaccharidosis VI. Mol Genet Metab 2011;102(2):111-15
-
(2011)
Mol Genet Metab
, vol.102
, Issue.2
, pp. 111-115
-
-
Turbeville, S.1
Nicely, H.2
Rizzo, J.D.3
-
12
-
-
77949343015
-
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II
-
Friso A, Tomanin R, Salvalaio M, Scarpa M. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol 2010;159:1082-91
-
(2010)
Br J Pharmacol
, vol.159
, pp. 1082-1091
-
-
Friso, A.1
Tomanin, R.2
Salvalaio, M.3
Scarpa, M.4
-
14
-
-
84856199028
-
Genistein in Sanfilippo disease: A randomized controlled crossover trial
-
de Ruijter J, Valstar MJ, Narajczyk M, et al. Genistein in Sanfilippo disease: A randomized controlled crossover trial. Ann Neurol 2012;71:110-20
-
(2012)
Ann Neurol
, vol.71
, pp. 110-120
-
-
De Ruijter, J.1
Valstar, M.J.2
Narajczyk, M.3
-
15
-
-
81155160850
-
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-Targeted isoflavone therapy (GET IT
-
Marucha J, Tylki-Szymanska A, Jakobkiewicz-Banecka J, et al. Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-Targeted isoflavone therapy (GET IT). Am J Med Genet A 2011;155A:2257-62
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2257-2262
-
-
Marucha, J.1
Tylki-Szymanska, A.2
Jakobkiewicz-Banecka, J.3
-
17
-
-
84896981695
-
-
Available from
-
Available from: Http://www.accessdata. fda.gov/drugsatfda-docs/label/ 2013/125117s111lbl.pdf
-
-
-
-
18
-
-
77952548275
-
-
Naglazyme [BioMarin. Ref Type: Pamphlet. Available from
-
Naglazyme [BioMarin]. Naglazyme prescribing information. 2005. Ref Type: Pamphlet. Available from: Http://www.naglazyme.com/hcp/pdfs/DosageandAdminGuide. pdf
-
(2005)
Naglazyme Prescribing Information
-
-
-
19
-
-
0037343066
-
Replacement therapy in Mucopolysaccharidosis type VI: Advantages of early onset of therapy
-
Auclair D, Hopwood JJ, Brooks DA, et al. Replacement therapy in Mucopolysaccharidosis type VI: Advantages of early onset of therapy. Mol Genet Metab 2003;78:163-74
-
(2003)
Mol Genet Metab
, vol.78
, pp. 163-174
-
-
Auclair, D.1
Hopwood, J.J.2
Brooks, D.A.3
-
20
-
-
16844379992
-
Pharmacokinetic profile of recombinant human nacetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis vi (maroteaux-lamy syndrome): A phase i/ii study
-
Harmatz P, Kramer WG, Hopwood JJ, et al. Pharmacokinetic profile of recombinant human Nacetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): A phase I/II study. Acta Paediatr Suppl 2005;94(447):61-8
-
(2005)
Acta Paediatr Suppl
, vol.94
, Issue.447
, pp. 61-68
-
-
Harmatz, P.1
Kramer, W.G.2
Hopwood, J.J.3
-
21
-
-
27744493202
-
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis 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, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis 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):e681-9
-
(2005)
Pediatrics
, vol.115
, Issue.6
-
-
Harmatz, P.1
Ketteridge, D.2
Giugliani, R.3
-
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, et al. 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 Pediatr 2006;148:533-9
-
(2006)
J Pediatr
, vol.148
, pp. 533-539
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.3
-
23
-
-
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 IV, 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;94:469-75
-
(2008)
Mol Genet Metab
, vol.94
, pp. 469-475
-
-
Harmatz, P.1
Giugliani, R.2
Schwartz, I.V.3
-
24
-
-
84879688261
-
Design, baseline characteristics, and early findings of the mps vi (mucopolysaccharidosis vi) clinical surveillance program (csp
-
Hendriksz CJ, Giugliani R, Harmatz P, et al. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis 2013;36(2):373-84
-
(2013)
J Inherit Metab Dis
, vol.36
, Issue.2
, pp. 373-384
-
-
Hendriksz, C.J.1
Giugliani, R.2
Harmatz, P.3
-
25
-
-
84896953357
-
Galsulfase (naglazyme-) therapy in infants with mucopolysaccharidosis vi
-
Epub ahead of print]
-
Harmatz PR, Garcia P, Guffon N, et al. Galsulfase (Naglazyme-) therapy in infants with mucopolysaccharidosis VI. J Inherit Metab Dis 2013. [Epub ahead of print]
-
(2013)
J Inherit Metab Dis
-
-
Harmatz, P.R.1
Garcia, P.2
Guffon, N.3
-
26
-
-
62949147825
-
-
Naglazyme INN-galsulfase Available from
-
Naglazyme, INN-galsulfase, European Medicines Agency. Available from: Http://www.ema.europa.eu/ema/
-
European Medicines Agency
-
-
-
27
-
-
34547682071
-
Management guidelines for mucopolysaccharidosis VI
-
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007;120(2):405-18
-
(2007)
Pediatrics
, vol.120
, Issue.2
, pp. 405-418
-
-
Giugliani, R.1
Harmatz, P.2
Wraith, J.E.3
-
28
-
-
79959735952
-
Thrombocytopenia associated with galsulfase treatment
-
Doǧan M, Cesur Y, Peker E, et al. Thrombocytopenia associated with galsulfase treatment. Hum Exp Toxicol 2011;30(7):768-71
-
(2011)
Hum Exp Toxicol
, vol.30
, Issue.7
, pp. 768-771
-
-
Doǧan, M.1
Cesur, Y.2
Peker, E.3
-
29
-
-
57149092604
-
Comparison of neutralizing antibody assays for receptor binding and enzyme activity of the enzyme replacement therapeutic naglazyme (galsulfase
-
White JT, Argento Martell L, Prince WS, et al. Comparison of neutralizing antibody assays for receptor binding and enzyme activity of the enzyme replacement therapeutic Naglazyme (galsulfase). AAPS J 2008;10(3):439-49
-
(2008)
AAPS J
, vol.10
, Issue.3
, pp. 439-449
-
-
White, J.T.1
Argento Martell, L.2
Prince, W.S.3
-
30
-
-
53849119826
-
Development, validation, and clinical implementation of an assay to measure total antibody response to naglazyme (galsulfase
-
White JT, Martell LA, Van Tuyl A, et al. Development, validation, and clinical implementation of an assay to measure total antibody response to naglazyme (galsulfase). AAPS J 2008;10(2):363-72
-
(2008)
AAPS J
, vol.10
, Issue.2
, pp. 363-372
-
-
White, J.T.1
Martell, L.A.2
Van Tuyl, A.3
-
31
-
-
84875689484
-
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
-
Brands MM, Hoogeveen-Westerveld M, Kroos MA, et al. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet J Rare Dis 2013;8(1):51
-
(2013)
Orphanet J Rare Dis
, vol.8
, Issue.1
, pp. 51
-
-
Brands, M.M.1
Hoogeveen-Westerveld, M.2
Kroos, M.A.3
-
32
-
-
79251542036
-
Mucopolysaccharidosis i ii and vi: Brief review and guidelines for treatment
-
Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol 2010;33(4):589-604
-
(2010)
Genet Mol Biol
, vol.33
, Issue.4
, pp. 589-604
-
-
Giugliani, R.1
Federhen, A.2
Rojas, M.V.3
-
35
-
-
84866154516
-
Current diagnosis and management of mucopolysaccharidosis vi in the asia-pacific region
-
Hwu WL, Okuyama T, But WM, et al. Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Mol Genet Metab 2012;107(1-2):136-44
-
(2012)
Mol Genet Metab
, vol.107
, Issue.1-2
, pp. 136-144
-
-
Hwu, W.L.1
Okuyama, T.2
But, W.M.3
-
36
-
-
77958454803
-
A systematic review of new advances in the management of mucopolysaccharidosis vi (maroteaux-lamy syndrome): Focus on galsulfase
-
El Dib RP, Pastores GM. A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Focus on galsulfase. Biologics 2009;3:459-68
-
(2009)
Biologics
, vol.3
, pp. 459-468
-
-
El Dib, R.P.1
Pastores, G.M.2
-
37
-
-
55249116853
-
Public healthcare resource allocation and the rule of rescue
-
Cookson R, McCabe C, Tsuchiya A. Public healthcare resource allocation and the Rule of Rescue. J Med Ethics 2008;34(7):540-4
-
(2008)
J Med Ethics
, vol.34
, Issue.7
, pp. 540-544
-
-
Cookson, R.1
McCabe, C.2
Tsuchiya, A.3
-
38
-
-
78649700786
-
Rare diseases orphan drugs and their regulation: Questions and misconceptions
-
Tambuyzer E. Rare diseases, orphan drugs and their regulation: Questions and misconceptions. Nat Rev Drug Discov 2010;9(12):921-9
-
(2010)
Nat Rev Drug Discov
, vol.9
, Issue.12
, pp. 921-929
-
-
Tambuyzer, E.1
-
39
-
-
77649237484
-
Enzyme replacement therapy for mucopolysaccharidosis vi: Evaluation of long-Term pulmonary function in patients treated with recombinant human nacetylgalactosamine 4-sulfatase
-
Harmatz P, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: Evaluation of long-Term pulmonary function in patients treated with recombinant human Nacetylgalactosamine 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
-
40
-
-
77954629021
-
Enzyme replacement therapy for mucopolysaccharidosis vi: Growth and pubertal development in patients treated with recombinant human nacetylgalactosamine 4-sulfatase
-
Decker C, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human Nacetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010;3(2):89-100
-
(2010)
J Pediatr Rehabil Med
, vol.3
, Issue.2
, pp. 89-100
-
-
Decker, C.1
Yu, Z.F.2
Giugliani, R.3
-
41
-
-
84879684477
-
Enzyme replacement therapy for mucopolysaccharidosis vi: Long-Term cardiac effects of galsulfase (naglazyme-) therapy
-
Braunlin E, Rosenfeld H, Kampmann C, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: Long-Term cardiac effects of galsulfase (Naglazyme-) therapy. J Inherit Metab Dis 2013;36(2):385-94
-
(2013)
J Inherit Metab Dis
, vol.36
, Issue.2
, pp. 385-394
-
-
Braunlin, E.1
Rosenfeld, H.2
Kampmann, C.3
-
42
-
-
0031029536
-
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI
-
Crawley AC, Niedzielski KH, Isaac EL, et al. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest 1997;99:651-62
-
(1997)
J Clin Invest
, vol.99
, pp. 651-662
-
-
Crawley, A.C.1
Niedzielski, K.H.2
Isaac, E.L.3
-
43
-
-
33845966431
-
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for mucopolysaccharidosis ii (hunter disease
-
Wang D, Wood T, Sadilek M, et al. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem 2007;53:137-40
-
(2007)
Clin Chem
, vol.53
, pp. 137-140
-
-
Wang, D.1
Wood, T.2
Sadilek, M.3
-
44
-
-
33745108808
-
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
-
Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 397-404
-
-
Gelb, M.H.1
Turecek, F.2
Scott, C.R.3
Chamoles, N.A.4
-
45
-
-
41049088026
-
Newborn screening for lysosomal storage disorders
-
Matern D. Newborn screening for lysosomal storage disorders. Acta Paediatr Suppl 2008;97:33-7
-
(2008)
Acta Paediatr Suppl
, vol.97
, pp. 33-37
-
-
Matern, D.1
-
46
-
-
34047267343
-
Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid
-
Dickson P, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab 2007;91:61-8
-
(2007)
Mol Genet Metab
, vol.91
, pp. 61-68
-
-
Dickson, P.1
McEntee, M.2
Vogler, C.3
-
47
-
-
77649340784
-
Intrathecal administration of recombinant human N-Acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis
-
Munoz-Rojas MV, Horovitz DD, Jardim LB, 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):346-50
-
(2009)
Mol Genet Metab
, vol.99
, Issue.4
, pp. 346-350
-
-
Munoz-Rojas, M.V.1
Horovitz, D.D.2
Jardim, L.B.3
-
48
-
-
33646705642
-
Intra-Articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and interval
-
Auclair D, Hein LK, Hopwood JJ, Byers S. Intra-Articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and interval. Pediatr Res 2006;59:538-43
-
(2006)
Pediatr Res
, vol.59
, pp. 538-543
-
-
Auclair, D.1
Hein, L.K.2
Hopwood, J.J.3
Byers, S.4
-
49
-
-
17744388985
-
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
-
Wang D, Eadala B, Sadilek M, et al. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900
-
(2005)
Clin Chem
, vol.51
, pp. 898-900
-
-
Wang, D.1
Eadala, B.2
Sadilek, M.3
-
50
-
-
78650921534
-
Efficient analysis of urinary glycosaminoglycans by lc-ms/ms in mucopolysaccharidoses type i, ii and vi
-
Auray-Blais C, Bhérer P, Gagnon R, et al. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab 2011;102:49-56
-
(2011)
Mol Genet Metab
, vol.102
, pp. 49-56
-
-
Auray-Blais, C.1
Bhérer, P.2
Gagnon, R.3
-
51
-
-
84994484228
-
Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects
-
Uribe A, Giugliani R. Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects. JIMD Rep 2013;11:107-16
-
(2013)
JIMD Rep
, vol.11
, pp. 107-116
-
-
Uribe, A.1
Giugliani, R.2
-
52
-
-
84866157661
-
Newborn screening for lysosomal diseases: Current status and potential interface with population medical genetics in Latin America
-
Giugliani R. Newborn screening for lysosomal diseases: Current status and potential interface with population medical genetics in Latin America. J Inherit Metab Dis 2012;35(5):871-7
-
(2012)
J Inherit Metab Dis
, vol.35
, Issue.5
, pp. 871-877
-
-
Giugliani, R.1
-
53
-
-
34447266922
-
Long-Term intra-Articular administration of recombinant human N-Acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI
-
Auclair D, Hopwood JJ, Lemontt JF, et al. Long-Term intra-Articular administration of recombinant human N-Acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI. Mol Genet Metab 2007;91:352-61
-
(2007)
Mol Genet Metab
, vol.91
, pp. 352-361
-
-
Auclair, D.1
Hopwood, J.J.2
Lemontt, J.F.3
-
54
-
-
79956286308
-
Recent advances in treatment approaches of mucopolysaccharidosis vi
-
Giugliani R, Carvalho CG, Herber S, de Camargo Pinto LL. Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI. Curr Pharm Biotechnol 2011;12(6):956-62
-
(2011)
Curr Pharm Biotechnol
, vol.12
, Issue.6
, pp. 956-962
-
-
Giugliani, R.1
Carvalho, C.G.2
Herber, S.3
De Camargo Pinto, L.L.4
-
55
-
-
4544354475
-
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
-
Azevedo AC, Schwartz IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet 2004;66(3):208-13
-
(2004)
Clin Genet
, vol.66
, Issue.3
, pp. 208-213
-
-
Azevedo, A.C.1
Schwartz, I.V.2
Kalakun, L.3
-
56
-
-
84860247256
-
Functional capacity evaluation of patients with mucopolysaccharidosis
-
Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med 2012;5(1):37-46
-
(2012)
J Pediatr Rehabil Med
, vol.5
, Issue.1
, pp. 37-46
-
-
Guarany, N.R.1
Schwartz, I.V.2
Guarany, F.C.3
Giugliani, R.4
-
57
-
-
84872445656
-
Mucopolysacccharidoses: From understanding to treatment a century of discoveries
-
Suppl
-
Giugliani R. Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genet Mol Biol 2012;35(4 (Suppl)):924-31.
-
(2012)
Genet Mol Biol
, vol.35
, Issue.4
, pp. 924-931
-
-
Giugliani, R.1
|