메뉴 건너뛰기




Volumn 18, Issue , 2015, Pages 1-11

Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome)

Author keywords

BioMarin pharmaceutical; Growth chart; Reference growth chart; Schwarz bayesian criterion; uGAG level

Indexed keywords


EID: 84951269854     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_333     Document Type: Chapter
Times cited : (33)

References (42)
  • 1
    • 0029021338 scopus 로고
    • Growth plate pathology in feline mucopolysaccharidosis VI
    • Abreu S, Hayden J, Berthold P et al (1995) Growth plate pathology in feline mucopolysaccharidosis VI. Calcif Tissue Int 57(3):185–190
    • (1995) Calcif Tissue Int , vol.57 , Issue.3 , pp. 185-190
    • Abreu, S.1    Hayden, J.2    Berthold, P.3
  • 2
    • 77954644714 scopus 로고    scopus 로고
    • Chondroitin sulfate and growth factor signaling in the skeleton: Possible links to MPS VI
    • Alliston T (2010) Chondroitin sulfate and growth factor signaling in the skeleton: possible links to MPS VI. J Pediatr Rehabil Med 3(2):129–138
    • (2010) J Pediatr Rehabil Med , vol.3 , Issue.2 , pp. 129-138
    • Alliston, T.1
  • 3
    • 79960786244 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): Endocrine evaluation of three cases
    • Borges MF, Tavares FS, Silva PCL et al (2003) Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): endocrine evaluation of three cases. Arq Bras Endocrinol Metab 47(1):87–94
    • (2003) Arq Bras Endocrinol Metab , vol.47 , Issue.1 , pp. 87-94
    • Borges, M.F.1    Tavares, F.S.2    Silva, P.C.L.3
  • 5
    • 0024435343 scopus 로고
    • Using the LMS method to measure skewness in the NCHS and Dutch National height standards
    • Cole TJ (1989) Using the LMS method to measure skewness in the NCHS and Dutch National height standards. Ann Hum Biol 16 (5):407–419
    • (1989) Ann Hum Biol , vol.16 , Issue.5 , pp. 407-419
    • Cole, T.J.1
  • 6
    • 0026682977 scopus 로고
    • Smoothing reference centile curves: The LMS method and penalized likelihood
    • Cole TJ, Green PJ (1992) Smoothing reference centile curves: the LMS method and penalized likelihood. Stat Med 11(10):1305–1319
    • (1992) Stat Med , vol.11 , Issue.10 , pp. 1305-1319
    • Cole, T.J.1    Green, P.J.2
  • 7
    • 85060352966 scopus 로고    scopus 로고
    • Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
    • de Ruijter J, Broere L, Mulder MF et al (2013) Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis. doi:10.1007/s10545-10013-96583
    • (2013) J Inherit Metab Dis
    • de Ruijter, J.1    Broere, L.2    Mulder, M.F.3
  • 8
    • 77954629021 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
    • Decker C, Yu Z-F, Giugliani R et al (2010) Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 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
  • 9
    • 82255179466 scopus 로고    scopus 로고
    • Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI
    • Furujo M, Kubo T, Kosuga M, Okuyama T (2011) Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol Genet Metab 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
  • 10
    • 0034633090 scopus 로고    scopus 로고
    • Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses
    • Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martinez SE et al (2000) Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch Med Res 31(5):505–510
    • (2000) Arch Med Res , vol.31 , Issue.5 , pp. 505-510
    • Gallegos-Arreola, M.P.1    Machorro-Lazo, M.V.2    Flores-Martinez, S.E.3
  • 11
    • 79955688949 scopus 로고    scopus 로고
    • Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)
    • Gardner CJ, Robinson N, Meadows T et al (2011) Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H). J Inherit Metab Dis 34(2):489–497
    • (2011) J Inherit Metab Dis , vol.34 , Issue.2 , pp. 489-497
    • Gardner, C.J.1    Robinson, N.2    Meadows, T.3
  • 12
    • 34547682071 scopus 로고    scopus 로고
    • Management guidelines for mucopolysaccharidosis VI
    • Giugliani R, Harmatz P, Wraith JE (2007) Management guidelines for mucopolysaccharidosis VI. Pediatrics 120(2):405–418
    • (2007) Pediatrics , vol.120 , Issue.2 , pp. 405-418
    • Giugliani, R.1    Harmatz, P.2    Wraith, J.E.3
  • 13
    • 84904416919 scopus 로고    scopus 로고
    • Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy Syndrome)—10 year follow-up of patients who previously participated in an MPS VI survey study
    • Giugliani R, Lampe C, Guffon N et al (2014) Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy Syndrome)—10 year follow-up of patients who previously participated in an MPS VI survey study. Am J Med Genet Part A. doi:10.1002/ajmg.a.36584
    • (2014) Am J Med Genet Part A
    • Giugliani, R.1    Lampe, C.2    Guffon, N.3
  • 14
    • 34548017456 scopus 로고    scopus 로고
    • Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: An evaluation
    • Gray G, Claridge P, Jenkinson L, Green A (2007) Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation. Ann Clin Biochem 44(Pt 4):360–363
    • (2007) Ann Clin Biochem , vol.44 , pp. 360-363
    • Gray, G.1    Claridge, P.2    Jenkinson, L.3    Green, A.4
  • 16
    • 1542669902 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux–Lamy syndrome)
    • Harmatz P, Whitley C, Waber L et al (2004) Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). J Pediatr 144(5):574–580
    • (2004) J Pediatr , vol.144 , Issue.5 , pp. 574-580
    • Harmatz, P.1    Whitley, C.2    Waber, L.3
  • 17
    • 27744493202 scopus 로고    scopus 로고
    • 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 N-acetylgalactosamine 4-sulfatase
    • Harmatz P, Ketteridge D, Giugliani R et al (2005) 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 N-acetylgalactosamine 4-sulfatase. Pediatrics 115(6)
    • (2005) Pediatrics , vol.115 , Issue.6
    • Harmatz, P.1    Ketteridge, D.2    Giugliani, R.3
  • 18
    • 33744978567 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study
    • Harmatz P, Giugliani R, Schwartz I et al (2006) Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 148(4):533–539
    • (2006) J Pediatr , vol.148 , Issue.4 , pp. 533-539
    • Harmatz, P.1    Giugliani, R.2    Schwartz, I.3
  • 19
    • 46949093352 scopus 로고    scopus 로고
    • 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 (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. Mol Genet Metab 94(4):469–475
    • (2008) Mol Genet Metab , vol.94 , Issue.4 , pp. 469-475
    • Harmatz, P.1    Giugliani, R.2    Schwartz, I.V.3
  • 20
    • 84921735523 scopus 로고    scopus 로고
    • Galsulfase (Naglazyme (R)) therapy in infants with mucopolysaccharidosis VI
    • Harmatz PR, Garcia P, Guffon N et al (2013) Galsulfase (Naglazyme (R)) therapy in infants with mucopolysaccharidosis VI. J Inherit Metab Dis. doi:10.1007/s10545-013-9654-7
    • (2013) J Inherit Metab Dis
    • Harmatz, P.R.1    Garcia, P.2    Guffon, N.3
  • 21
    • 84879688261 scopus 로고    scopus 로고
    • Design, baseline characteristics, and early findings of the MPS VI (Mucopolysac-charidosis VI) Clinical Surveillance Program (CSP)
    • Hendriksz C, Giugliani R, Harmatz P et al (2013) Design, baseline characteristics, and early findings of the MPS VI (mucopolysac-charidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis 36(2):373–384
    • (2013) J Inherit Metab Dis , vol.36 , Issue.2 , pp. 373-384
    • Hendriksz, C.1    Giugliani, R.2    Harmatz, P.3
  • 22
    • 2642573491 scopus 로고    scopus 로고
    • Early diagnosis of Maroteaux–Lamy syndrome in two patients with accelerated growth and advanced bone maturation
    • Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M (2004) Early diagnosis of Maroteaux–Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr 163(6):323–326
    • (2004) Eur J Pediatr , vol.163 , Issue.6 , pp. 323-326
    • Heron, D.1    Baumann, C.2    Benichou, J.J.3    Harpey, J.P.4    Le Merrer, M.5
  • 23
    • 84876092083 scopus 로고    scopus 로고
    • Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
    • Horovitz DD, Magalhaes TS, Acosta A et al (2013) Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol Genet Metab 109(1):62–69
    • (2013) Mol Genet Metab , vol.109 , Issue.1 , pp. 62-69
    • Horovitz, D.D.1    Magalhaes, T.S.2    Acosta, A.3
  • 24
    • 0020074264 scopus 로고
    • Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia
    • Horton WA, Hall JG, Scott CI, Pyeritz RE, Rimoin DL (1982) Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child 136(4):316–319
    • (1982) Am J Dis Child , vol.136 , Issue.4 , pp. 316-319
    • Horton, W.A.1    Hall, J.G.2    Scott, C.I.3    Pyeritz, R.E.4    Rimoin, D.L.5
  • 25
    • 84926195429 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
    • Jurecka A, Zakharova E, Cimbalistiene L et al (2013) Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. Pediatr Int. doi:10.1111/ped.12281
    • (2013) Pediatr Int
    • Jurecka, A.1    Zakharova, E.2    Cimbalistiene, L.3
  • 26
    • 84899952631 scopus 로고    scopus 로고
    • Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
    • Kantaputra PN, Kayserili H, Guven Y et al (2014) Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet Part A 164(6):1443–1453
    • (2014) Am J Med Genet Part A , vol.164 , Issue.6 , pp. 1443-1453
    • Kantaputra, P.N.1    Kayserili, H.2    Guven, Y.3
  • 27
    • 34547673433 scopus 로고    scopus 로고
    • Mutational analysis of 105 mucopolysaccharidosis type VI patients
    • Karageorgos L, Brooks DA, Pollard A et al (2007) Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat 28(9):897–903
    • (2007) Hum Mutat , vol.28 , Issue.9 , pp. 897-903
    • Karageorgos, L.1    Brooks, D.A.2    Pollard, A.3
  • 28
    • 70349555987 scopus 로고    scopus 로고
    • 2000 CDC growth charts for the United States: Methods and development
    • Kuczmarski R, Ogden C, Guo S et al (2002) 2000 CDC growth charts for the United States: Methods and development. Vital Health Stat 11(246):1–190
    • (2002) Vital Health Stat , vol.11 , Issue.246 , pp. 1-190
    • Kuczmarski, R.1    Ogden, C.2    Guo, S.3
  • 30
    • 0003720078 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G (eds), McGraw-Hill, New York, Accessed 23 Jan 2014
    • Neufeld EF, Muenzer J (2013) The mucopolysaccharidoses. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G (eds) OMMBID – the online metabolic and molecular bases of inherited diseases. McGraw-Hill, New York. http://ommbid.mhmedical.com/content.aspx? bookid=474&Sectionid=45374136. Accessed 23 Jan 2014
    • (2013) OMMBID – the Online Metabolic and Molecular Bases of Inherited Diseases
    • Neufeld, E.F.1    Muenzer, J.2
  • 31
    • 47849115960 scopus 로고    scopus 로고
    • Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation
    • Polgreen LE, Tolar J, Plog M et al (2008) Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. Bone Marrow Transplant 41(12):1005–1011
    • (2008) Bone Marrow Transplant , vol.41 , Issue.12 , pp. 1005-1011
    • Polgreen, L.E.1    Tolar, J.2    Plog, M.3
  • 32
    • 84895004415 scopus 로고    scopus 로고
    • Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI
    • Polgreen LE, Thomas W, Fung E et al (2014) Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. J Clin Densitom 17(1):200–206
    • (2014) J Clin Densitom , vol.17 , Issue.1 , pp. 200-206
    • Polgreen, L.E.1    Thomas, W.2    Fung, E.3
  • 33
    • 0024345360 scopus 로고
    • Disease-specific growth charts–do we need them?
    • Ranke MB (1989) Disease-specific growth charts–do we need them? Acta Paediatr Scand Suppl 356:17–25
    • (1989) Acta Paediatr Scand Suppl , vol.356 , pp. 17-25
    • Ranke, M.B.1
  • 34
    • 69049101187 scopus 로고    scopus 로고
    • Mucopolysaccharidosis VI: The Italian experience
    • Scarpa M, Barone R, Fiumara A et al (2009) Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr 168(10):1203–1206
    • (2009) Eur J Pediatr , vol.168 , Issue.10 , pp. 1203-1206
    • Scarpa, M.1    Barone, R.2    Fiumara, A.3
  • 35
    • 76249093889 scopus 로고    scopus 로고
    • Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses
    • Simonaro CM, Ge Y, Eliyahu E, He X, Jepsen KJ, Schuchman EH (2010) 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 107(1):222–227
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.1 , pp. 222-227
    • Simonaro, C.M.1    Ge, Y.2    Eliyahu, E.3    He, X.4    Jepsen, K.J.5    Schuchman, E.H.6
  • 36
    • 20144386995 scopus 로고    scopus 로고
    • 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, Beck M, Bajbouj M et al (2005) 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 A 134A(2):144–150
    • (2005) Am J Med Genet A , vol.134A , Issue.2 , pp. 144-150
    • Swiedler, S.1    Beck, M.2    Bajbouj, M.3
  • 37
    • 84871104967 scopus 로고    scopus 로고
    • Growth failure and outcome in Rett syndrome: Specific growth references
    • Tarquinio DC, Motil KJ, Hou W et al (2010) Growth failure and outcome in Rett syndrome: specific growth references. Neurology 79(16):1653–1661
    • (2010) Neurology , vol.79 , Issue.16 , pp. 1653-1661
    • Tarquinio, D.C.1    Motil, K.J.2    Hou, W.3
  • 39
    • 71649093573 scopus 로고    scopus 로고
    • Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase)
    • Tylki-Szymanska A, Rozdzynska A, Jurecka A, Marucha J, Czartoryska B (2010) Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase). Mol Genet Metab 99(1):10–17
    • (2010) Mol Genet Metab , vol.99 , Issue.1 , pp. 10-17
    • Tylki-Szymanska, A.1    Rozdzynska, A.2    Jurecka, A.3    Marucha, J.4    Czartoryska, B.5
  • 40
    • 0016742656 scopus 로고
    • Empty Sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux–Lamy)
    • von Muhlendahl KE, Bradac GB (1975) Empty Sella syndrome in a boy with mucopolysaccharidosis type VI (Maroteaux–Lamy). Helv Paediatr Acta 30(2):185–190
    • (1975) Helv Paediatr Acta , vol.30 , Issue.2 , pp. 185-190
    • von Muhlendahl, K.E.1    Bradac, G.B.2
  • 41
    • 84855590904 scopus 로고    scopus 로고
    • Orthopaedic aspects of mucopolysaccharidoses
    • White K (2011) Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 50(Suppl 5):26–33
    • (2011) Rheumatology (Oxford) , vol.50 , pp. 26-33
    • White, K.1
  • 42
    • 0024520993 scopus 로고
    • Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion
    • Whitley CB, Ridnour MD, Draper KA, Dutton CM, Neglia JP (1989) Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem 35(3):374–379
    • (1989) Clin Chem , vol.35 , Issue.3 , pp. 374-379
    • Whitley, C.B.1    Ridnour, M.D.2    Draper, K.A.3    Dutton, C.M.4    Neglia, J.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.