메뉴 건너뛰기




Volumn 53, Issue 6, 2016, Pages 403-418

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

(28)  Montaño, Adriana M a   Lock Hock, Ngu b   Steiner, Robert D c,d,e   Graham, Brett H f   Szlago, Marina g   Greenstein, Robert h   Pineda, Mercedes i   Gonzalez Meneses, Antonio j   çoker, Mahmut k   Bartholomew, Dennis l   Sands, Mark S m   Wang, Raymond n,o   Giugliani, Roberto p   Macaya, Alfons q   Pastores, Gregory r   Ketko, Anastasia K s,t   Ezgü, Fatih u   Tanaka, Akemi v   Arash, Laila w   Beck, Michael w   more..


Author keywords

[No Author keywords available]

Indexed keywords

RECOMBINANT BETA GLUCURONIDASE; BETA GLUCURONIDASE;

EID: 84959263850     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103322     Document Type: Article
Times cited : (138)

References (82)
  • 1
    • 0015582263 scopus 로고
    • Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis
    • Sly WS, Quinton BA, McAlister WH, Rimoin DL. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr 1973;82:249-57
    • (1973) J Pediatr , vol.82 , pp. 249-257
    • Sly, W.S.1    Quinton, B.A.2    McAlister, W.H.3    Rimoin, D.L.4
  • 3
    • 0031447880 scopus 로고    scopus 로고
    • Incidence of the mucopolysaccharidoses in Northern Ireland
    • Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 1997;101:355-8
    • (1997) Hum Genet , vol.101 , pp. 355-358
    • Nelson, J.1
  • 4
    • 0017671685 scopus 로고
    • Beta-glucuronidase deficiency in a girl with unusual clinical features
    • Pfeiffer RA, Kresse H, Bäumer N, Sattinger E. Beta-glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr 1977;126:155-61
    • (1977) Eur J Pediatr , vol.126 , pp. 155-161
    • Pfeiffer, R.A.1    Kresse, H.2    Bäumer, N.3    Sattinger, E.4
  • 5
    • 0018756955 scopus 로고
    • [Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family]
    • Guibaud P, Maire I, Goddon R, Teyssier G, Zabot MT, Mandon G. [Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family]. J Genet Hum 1979;27:29-43
    • (1979) J Genet Hum , vol.27 , pp. 29-43
    • Guibaud, P.1    Maire, I.2    Goddon, R.3    Teyssier, G.4    Zabot, M.T.5    Mandon, G.6
  • 6
  • 8
    • 0016226453 scopus 로고
    • Different clinical and biochemical phenotypes associated with b-glucuronidase defficiency
    • Danes BS, Degnan M. Different clinical and biochemical phenotypes associated with b-glucuronidase defficiency. Birth Defects Orig Artic Ser 1974;X:251-7
    • (1974) Birth Defects Orig Artic Ser , vol.10 , pp. 251-257
    • Danes, B.S.1    Degnan, M.2
  • 11
    • 0033631258 scopus 로고    scopus 로고
    • Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    • Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10
    • (2000) Pediatrics , vol.105
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 14
    • 53749104461 scopus 로고    scopus 로고
    • Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence
    • Malm G, Lund AM, Månsson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr 2008;97:1577-81
    • (2008) Acta Paediatr , vol.97 , pp. 1577-1581
    • Malm, G.1    Lund, A.M.2    Månsson, J.E.3    Heiberg, A.4
  • 16
    • 0344033744 scopus 로고    scopus 로고
    • Incidence of the mucopolysaccharidoses in Western Australia
    • Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 2003;123A:310-13
    • (2003) Am J Med Genet A , vol.123A , pp. 310-313
    • Nelson, J.1    Crowhurst, J.2    Carey, B.3    Greed, L.4
  • 17
    • 84868469673 scopus 로고    scopus 로고
    • Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature
    • Whybra C, Mengel E, Russo A, Bahlmann F, Kampmann C, Beck M, Eich E, Mildenberger E. Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. Orphanet J Rare Dis 2012;7:86
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 86
    • Whybra, C.1    Mengel, E.2    Russo, A.3    Bahlmann, F.4    Kampmann, C.5    Beck, M.6    Eich, E.7    Mildenberger, E.8
  • 18
    • 84855577104 scopus 로고    scopus 로고
    • Overview of the mucopolysaccharidoses
    • Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50(Suppl 5):v4-12
    • (2011) Rheumatology (Oxford) , vol.50 , pp. v4-v12
    • Muenzer, J.1
  • 19
    • 0033286018 scopus 로고    scopus 로고
    • Hydrops fetalis: lysosomal storage disorders in extremis
    • Stone DL, Sidransky E. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr 1999;46:409-40
    • (1999) Adv Pediatr , vol.46 , pp. 409-440
    • Stone, D.L.1    Sidransky, E.2
  • 21
    • 0030015386 scopus 로고    scopus 로고
    • Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings
    • Van Dorpe J, Moerman P, Pecceu A, Van den Steen P, Fryns JP. Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. Genet Couns 1996;7:105-12
    • (1996) Genet Couns , vol.7 , pp. 105-112
    • Van Dorpe, J.1    Moerman, P.2    Pecceu, A.3    Van den Steen, P.4    Fryns, J.P.5
  • 22
    • 0030040755 scopus 로고    scopus 로고
    • Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21?q11.22 and two pseudogenes to 5p13 and 5q13
    • Speleman F, Vervoort R, van Roy N, Liebaers I, Sly WS, Lissens W. Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21?q11.22 and two pseudogenes to 5p13 and 5q13. Cytogenet Cell Genet 1996;72:53-5
    • (1996) Cytogenet Cell Genet , vol.72 , pp. 53-55
    • Speleman, F.1    Vervoort, R.2    van Roy, N.3    Liebaers, I.4    Sly, W.S.5    Lissens, W.6
  • 26
    • 0027493235 scopus 로고
    • Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes
    • Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet 1993;52:517-26
    • (1993) Am J Hum Genet , vol.52 , pp. 517-526
    • Shipley, J.M.1    Klinkenberg, M.2    Wu, B.M.3    Bachinsky, D.R.4    Grubb, J.H.5    Sly, W.S.6
  • 27
    • 0028093249 scopus 로고
    • Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings
    • Wu BM, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly WS. Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. J Biol Chem 1994;269:23681-8
    • (1994) J Biol Chem , vol.269 , pp. 23681-23688
    • Wu, B.M.1    Tomatsu, S.2    Fukuda, S.3    Sukegawa, K.4    Orii, T.5    Sly, W.S.6
  • 29
    • 63749116578 scopus 로고    scopus 로고
    • Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)
    • Tomatsu S, Montaño AM, Dung VC, Grubb JH, Sly WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat 2009;30:511-19
    • (2009) Hum Mutat , vol.30 , pp. 511-519
    • Tomatsu, S.1    Montaño, A.M.2    Dung, V.C.3    Grubb, J.H.4    Sly, W.S.5
  • 30
    • 0029757644 scopus 로고    scopus 로고
    • beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients
    • Islam MR, Vervoort R, Lissens W, Hoo JJ, Valentino LA, Sly WS. beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients. Hum Genet 1996;98:281-4
    • (1996) Hum Genet , vol.98 , pp. 281-284
    • Islam, M.R.1    Vervoort, R.2    Lissens, W.3    Hoo, J.J.4    Valentino, L.A.5    Sly, W.S.6
  • 32
    • 0030944504 scopus 로고    scopus 로고
    • Molecular analysis of the β-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region
    • Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W. Molecular analysis of the β-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. Hum Genet 1997;99:462-8
    • (1997) Hum Genet , vol.99 , pp. 462-468
    • Vervoort, R.1    Buist, N.R.2    Kleijer, W.J.3    Wevers, R.4    Fryns, J.P.5    Liebaers, I.6    Lissens, W.7
  • 33
    • 0026005980 scopus 로고
    • Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII
    • Chabas A, Giros ML, Guardiola A. Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. J Inherit Metab Dis 1991;14:908-14
    • (1991) J Inherit Metab Dis , vol.14 , pp. 908-914
    • Chabas, A.1    Giros, M.L.2    Guardiola, A.3
  • 34
    • 0031899732 scopus 로고    scopus 로고
    • Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
    • Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W. Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. Hum Genet 1998;102:69-78
    • (1998) Hum Genet , vol.102 , pp. 69-78
    • Vervoort, R.1    Gitzelmann, R.2    Bosshard, N.3    Maire, I.4    Liebaers, I.5    Lissens, W.6
  • 35
    • 0002051540 scopus 로고    scopus 로고
    • BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT
    • Hall TA. BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser 2001;41:95-8
    • (2001) Nucl Acids Symp Ser , vol.41 , pp. 95-98
    • Hall, T.A.1
  • 36
    • 34547781750 scopus 로고    scopus 로고
    • MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) Software Version 4.0
    • Tamura K, Dudley J, Nei M, Kumar S. MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) Software Version 4.0. Mol Biol Evol 2007;24:1596-9
    • (2007) Mol Biol Evol , vol.24 , pp. 1596-1599
    • Tamura, K.1    Dudley, J.2    Nei, M.3    Kumar, S.4
  • 37
    • 4344577421 scopus 로고    scopus 로고
    • Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma
    • Dickerman RD, Colle KO, Bruno CA, Jr, Schneider SJ. Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine 2004;29:E92-94
    • (2004) Spine , vol.29 , pp. E92-E94
    • Dickerman, R.D.1    Colle, K.O.2    Bruno, C.A.3    Schneider, S.J.4
  • 38
    • 84921632716 scopus 로고    scopus 로고
    • First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient
    • Fox JE, Volpe L, Bullaro J, Kakkis ED, Sly WS. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab 2015;114:203-8
    • (2015) Mol Genet Metab , vol.114 , pp. 203-208
    • Fox, J.E.1    Volpe, L.2    Bullaro, J.3    Kakkis, E.D.4    Sly, W.S.5
  • 39
    • 0019468395 scopus 로고
    • Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy
    • Hoyme HE, Jones KL, Higginbottom MC, O'Brien JS. Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy. J Med Genet 1981;18:237-9
    • (1981) J Med Genet , vol.18 , pp. 237-239
    • Hoyme, H.E.1    Jones, K.L.2    Higginbottom, M.C.3    O'Brien, J.S.4
  • 40
    • 0019944507 scopus 로고
    • Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature
    • Sewell AC, Gehler J, Mittermaier G, Meyer E. Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature. Clin Genet 1982;21:366-73
    • (1982) Clin Genet , vol.21 , pp. 366-373
    • Sewell, A.C.1    Gehler, J.2    Mittermaier, G.3    Meyer, E.4
  • 41
    • 0019404399 scopus 로고
    • [Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]
    • Teyssier G, Maire I, Damon G, Boyer S, Lauras B, Freycon F. [Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]. Arch Fr Pediatr 1981;38:603-4
    • (1981) Arch Fr Pediatr , vol.38 , pp. 603-604
    • Teyssier, G.1    Maire, I.2    Damon, G.3    Boyer, S.4    Lauras, B.5    Freycon, F.6
  • 42
    • 0027191456 scopus 로고
    • β-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid
    • Chabás A, Guardiola A. β-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid. Prenat Diagn 1993;13:429-33
    • (1993) Prenat Diagn , vol.13 , pp. 429-433
    • Chabás, A.1    Guardiola, A.2
  • 43
    • 0022391063 scopus 로고
    • Quantitation and biosynthesis of β-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII
    • Sukegawa K, Orii T. Quantitation and biosynthesis of β-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII. J Inherit Metab Dis 1985;8:145-6
    • (1985) J Inherit Metab Dis , vol.8 , pp. 145-146
    • Sukegawa, K.1    Orii, T.2
  • 44
    • 0037315255 scopus 로고    scopus 로고
    • Mutational analysis in longest known survivor of mucopolysaccharidosis type VII
    • Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. Hum Genet 2003;112:190-4
    • (2003) Hum Genet , vol.112 , pp. 190-194
    • Storch, S.1    Wittenstein, B.2    Islam, R.3    Ullrich, K.4    Sly, W.S.5    Braulke, T.6
  • 47
    • 0020616251 scopus 로고
    • Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis
    • Irani D, Kim HS, El-Hibri H, Dutton RV, Beaudet A, Armstrong D. Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis. Ann Neurol 1983;14:486-90
    • (1983) Ann Neurol , vol.14 , pp. 486-490
    • Irani, D.1    Kim, H.S.2    El-Hibri, H.3    Dutton, R.V.4    Beaudet, A.5    Armstrong, D.6
  • 48
    • 0020316896 scopus 로고
    • Mucopolysaccharidosis VII (β-glucuronidase deficiency) presenting as nonimmune hydrops fetalis
    • Nelson A, Peterson L, Frampton B, Sly WS. Mucopolysaccharidosis VII (β-glucuronidase deficiency) presenting as nonimmune hydrops fetalis. J Pediatr 1982;101:574-6
    • (1982) J Pediatr , vol.101 , pp. 574-576
    • Nelson, A.1    Peterson, L.2    Frampton, B.3    Sly, W.S.4
  • 50
    • 0030898604 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications
    • Molyneux AJ, Blair E, Coleman N, Daish P. Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. J Clin Pathol 1997;50:252-4
    • (1997) J Clin Pathol , vol.50 , pp. 252-254
    • Molyneux, A.J.1    Blair, E.2    Coleman, N.3    Daish, P.4
  • 51
    • 0027173381 scopus 로고
    • Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis
    • Nelson J, Kenny B, O'Hara D, Harper A, Broadhead D. Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. J Clin Pathol 1993;46:370-1
    • (1993) J Clin Pathol , vol.46 , pp. 370-371
    • Nelson, J.1    Kenny, B.2    O'Hara, D.3    Harper, A.4    Broadhead, D.5
  • 52
    • 0026784521 scopus 로고
    • Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy
    • Stangenberg M, Lingman G, Roberts G, Ozand P. Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy. Am J Med Genet 1992;44:142-4
    • (1992) Am J Med Genet , vol.44 , pp. 142-144
    • Stangenberg, M.1    Lingman, G.2    Roberts, G.3    Ozand, P.4
  • 53
    • 0031725688 scopus 로고    scopus 로고
    • β-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling
    • Van Eyndhoven HW, Ter Brugge HG, Van Essen AJ, Kleijer WJ. β-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling. Prenat Diagn 1998;18:959-62
    • (1998) Prenat Diagn , vol.18 , pp. 959-962
    • Van Eyndhoven, H.W.1    Ter Brugge, H.G.2    Van Essen, A.J.3    Kleijer, W.J.4
  • 54
    • 0028916304 scopus 로고
    • Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 50-splice site
    • Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T. Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 50-splice site. Hum Mol Genet 1995;4:651-5
    • (1995) Hum Mol Genet , vol.4 , pp. 651-655
    • Yamada, S.1    Tomatsu, S.2    Sly, W.S.3    Islam, R.4    Wenger, D.A.5    Fukuda, S.6    Sukegawa, K.7    Orii, T.8
  • 57
    • 0020963257 scopus 로고
    • [A new case of mucopolysaccharidosis type VII with major skeletal abnormalities]
    • Capdeville R, Boissinot G, Graveleau D, Maroteaux P. [A new case of mucopolysaccharidosis type VII with major skeletal abnormalities]. Ann Pediatr (Paris) 1983;30:689-92
    • (1983) Ann Pediatr (Paris) , vol.30 , pp. 689-692
    • Capdeville, R.1    Boissinot, G.2    Graveleau, D.3    Maroteaux, P.4
  • 60
    • 0034786079 scopus 로고    scopus 로고
    • Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII
    • Toda Y, Takeuchi M, Morita K, Iwasaki T, Oe K, Yokoyama M, Hirakawa M. Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII. Anesthesiology 2001;95:1035-7
    • (2001) Anesthesiology , vol.95 , pp. 1035-1037
    • Toda, Y.1    Takeuchi, M.2    Morita, K.3    Iwasaki, T.4    Oe, K.5    Yokoyama, M.6    Hirakawa, M.7
  • 62
    • 0028186727 scopus 로고
    • Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency
    • Vogler C, Levy B, Kyle JW, Sly WS, Williamson J, Whyte MP. Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency. Mod Pathol 1994;7:132-7
    • (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
  • 65
    • 0026641461 scopus 로고
    • Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia
    • de Kremer RD, Givogri I, Argaraña CE, Hliba E, Conci R, Boldini CD, Capra AP. Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia. Am J Med Genet 1992;44:145-52
    • (1992) Am J Med Genet , vol.44 , pp. 145-152
    • de Kremer, R.D.1    Givogri, I.2    Argaraña, C.E.3    Hliba, E.4    Conci, R.5    Boldini, C.D.6    Capra, A.P.7
  • 66
    • 0031820589 scopus 로고    scopus 로고
    • Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII
    • Tokieda K, Morikawa Y, Natori M, Hayashida S, Mori K, Ikeda K. Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII. J Perinat Med 1998;26:235-9
    • (1998) J Perinat Med , vol.26 , pp. 235-239
    • Tokieda, K.1    Morikawa, Y.2    Natori, M.3    Hayashida, S.4    Mori, K.5    Ikeda, K.6
  • 67
    • 84855590904 scopus 로고    scopus 로고
    • Orthopaedic aspects of mucopolysaccharidoses
    • White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011;50(Suppl 5):v26-33
    • (2011) Rheumatology (Oxford) , vol.50 , pp. v26-v33
    • White, K.K.1
  • 68
    • 0025289344 scopus 로고
    • Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII
    • Wallace SP, Prutting CA, Gerber SE. Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int J Pediatr Otorhinolaryngol 1990;19:97-107
    • (1990) Int J Pediatr Otorhinolaryngol , vol.19 , pp. 97-107
    • Wallace, S.P.1    Prutting, C.A.2    Gerber, S.E.3
  • 70
    • 26844534412 scopus 로고    scopus 로고
    • Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII
    • Vogler C, Levy B, Grubb JH, Galvin N, Tan Y, Kakkis E, PavloffN, Sly WS. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 2005;102:14777-82
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 14777-14782
    • Vogler, C.1    Levy, B.2    Grubb, J.H.3    Galvin, N.4    Tan, Y.5    Kakkis, E.6    Pavloff, N.7    Sly, W.S.8
  • 71
    • 84867653884 scopus 로고    scopus 로고
    • Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII
    • Huynh HT, Grubb JH, Vogler C, Sly WS. Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 2012;109:17022-7
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 17022-17027
    • Huynh, H.T.1    Grubb, J.H.2    Vogler, C.3    Sly, W.S.4
  • 73
    • 0030898926 scopus 로고    scopus 로고
    • Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation
    • Sands MS, Vogler C, Torrey A, Levy B, Gwynn B, Grubb J, Sly WS, Birkenmeier EH. Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. J Clin Invest 1997;99:1596-605
    • (1997) J Clin Invest , vol.99 , pp. 1596-1605
    • Sands, M.S.1    Vogler, C.2    Torrey, A.3    Levy, B.4    Gwynn, B.5    Grubb, J.6    Sly, W.S.7    Birkenmeier, E.H.8
  • 74
    • 33846312858 scopus 로고    scopus 로고
    • Adeno-associated virus type 5 reduces learning deficits and restores glutamate receptor subunit levels in MPS VII mice CNS
    • Liu G, Chen YH, He X, Martins I, Heth JA, Chiorini JA, Davidson BL. Adeno-associated virus type 5 reduces learning deficits and restores glutamate receptor subunit levels in MPS VII mice CNS. Mol Ther 2007;15:242-7
    • (2007) Mol Ther , vol.15 , pp. 242-247
    • Liu, G.1    Chen, Y.H.2    He, X.3    Martins, I.4    Heth, J.A.5    Chiorini, J.A.6    Davidson, B.L.7
  • 75
    • 1942521291 scopus 로고    scopus 로고
    • Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs
    • Mango RL, Xu L, Sands MS, Vogler C, Seiler G, Schwarz T, Haskins ME, Ponder KP. 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
  • 76
    • 84974821326 scopus 로고    scopus 로고
    • A one year follow-up of treatment with investigational recombinant human beta-glucuronidase enzyme replacement in a patient with an advanced stage mucopolysaccharidosis type VII
    • Fox JE, Volpe L, Bullaro J, Kakkis E, Sly WS. A one year follow-up of treatment with investigational recombinant human beta-glucuronidase enzyme replacement in a patient with an advanced stage mucopolysaccharidosis type VII. Mol Genet Metab 2015;114:359
    • (2015) Mol Genet Metab , vol.114 , pp. 359
    • Fox, J.E.1    Volpe, L.2    Bullaro, J.3    Kakkis, E.4    Sly, W.S.5
  • 78
    • 0025719951 scopus 로고
    • Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation
    • Birkenmeier EH, Barker JE, Vogler CA, Kyle JW, Sly WS, Gwynn B, Levy B, Pegors C. Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation. Blood 1991;78:3081-92
    • (1991) Blood , vol.78 , pp. 3081-3092
    • Birkenmeier, E.H.1    Barker, J.E.2    Vogler, C.A.3    Kyle, J.W.4    Sly, W.S.5    Gwynn, B.6    Levy, B.7    Pegors, C.8
  • 81
    • 45349094108 scopus 로고    scopus 로고
    • An overview of enzyme replacement therapy for lysosomal storage diseases
    • Bailey L. An overview of enzyme replacement therapy for lysosomal storage diseases. Online J Issues Nurs 2008;13:4
    • (2008) Online J Issues Nurs , vol.13 , pp. 4
    • Bailey, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.