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Volumn 15, Issue , 2015, Pages 59-66

Mortality in patients with morquio syndrome a

Author keywords

Death certificate; Enzyme replacement therapy; Lysosomal storage disease; Obstructive sleep apnoea; Respiratory failure

Indexed keywords


EID: 85060277369     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_298     Document Type: Chapter
Times cited : (86)

References (18)
  • 1
    • 84875439601 scopus 로고    scopus 로고
    • Current and emerging management options for patients with Morquio A syndrome
    • Algahim MF, Almassi GH (2013) Current and emerging management options for patients with Morquio A syndrome. Ther Clin Risk Manag 9:45–53
    • (2013) Ther Clin Risk Manag , vol.9 , pp. 45-53
    • Algahim, M.F.1    Almassi, G.H.2
  • 2
    • 0033631258 scopus 로고    scopus 로고
    • Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    • Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105(1):e10
    • (2000) Pediatrics , vol.105 , Issue.1
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 3
    • 0016910651 scopus 로고
    • The enzymic defects in Morquio and Maroteaux-Lamy syndrome
    • Dorfman A, Arbogast B, Matalon R (1976) The enzymic defects in Morquio and Maroteaux-Lamy syndrome. Adv Exp Med Biol 68:261–276
    • (1976) Adv Exp Med Biol , vol.68 , pp. 261-276
    • Dorfman, A.1    Arbogast, B.2    Matalon, R.3
  • 4
    • 0019972227 scopus 로고
    • Impaired degradation of keratan sulphate by Morquio A fibroblasts
    • Glössl J, Kresse H (1982) Impaired degradation of keratan sulphate by Morquio A fibroblasts. Biochem J 203(1):335–338
    • (1982) Biochem J , vol.203 , Issue.1 , pp. 335-338
    • Glössl, J.1    Kresse, H.2
  • 5
    • 84879687716 scopus 로고    scopus 로고
    • Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
    • Hendriksz CJ, Al-Jawad M, Berger KI et al (2013) Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis 36(2): 309–322
    • (2013) J Inherit Metab Dis , vol.36 , Issue.2 , pp. 309-322
    • Hendriksz, C.J.1    Al-Jawad, M.2    Berger, K.I.3
  • 6
    • 0025335440 scopus 로고
    • Echocardiographic abnormalities in type IV mucopolysaccharidosis
    • John RM, Hunter D, Swanton RH (1990) Echocardiographic abnormalities in type IV mucopolysaccharidosis. Arch Dis Child 65(7):746–749
    • (1990) Arch Dis Child , vol.65 , Issue.7 , pp. 746-749
    • John, R.M.1    Hunter, D.2    Swanton, R.H.3
  • 7
    • 33947615114 scopus 로고    scopus 로고
    • International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
    • Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T (2007) International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 30(2):165–174
    • (2007) J Inherit Metab Dis , vol.30 , Issue.2 , pp. 165-174
    • Montaño, A.M.1    Tomatsu, S.2    Gottesman, G.S.3    Smith, M.4    Orii, T.5
  • 8
    • 0031447880 scopus 로고    scopus 로고
    • Incidence of the mucopolysaccharidoses in Northern Ireland
    • Nelson J (1997) Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101(3):355–358
    • (1997) Hum Genet , vol.101 , Issue.3 , pp. 355-358
    • Nelson, J.1
  • 9
    • 0023838372 scopus 로고
    • Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia
    • Nelson J, Thomas PS (1988) Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia. Clin Genet 33(2):126–130
    • (1988) Clin Genet , vol.33 , Issue.2 , pp. 126-130
    • Nelson, J.1    Thomas, P.S.2
  • 10
    • 0029935872 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review
    • Northover H, Cowie RA, Wraith JE (1996) Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 19(3):357–365
    • (1996) J Inherit Metab Dis , vol.19 , Issue.3 , pp. 357-365
    • Northover, H.1    Cowie, R.A.2    Wraith, J.E.3
  • 11
    • 34247099401 scopus 로고    scopus 로고
    • Tracheomalacia in an adult with respiratory failure and Morquio syndrome
    • Pelley CJ, Kwo J, Hess DR (2007) Tracheomalacia in an adult with respiratory failure and Morquio syndrome. Respir Care 52(3):278–282
    • (2007) Respir Care , vol.52 , Issue.3 , pp. 278-282
    • Pelley, C.J.1    Kwo, J.2    Hess, D.R.3
  • 12
    • 0037295890 scopus 로고    scopus 로고
    • Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines
    • Peters C, Steward CG (2003) Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 31(4):229–239
    • (2003) Bone Marrow Transplant , vol.31 , Issue.4 , pp. 229-239
    • Peters, C.1    Steward, C.G.2
  • 13
    • 0032780351 scopus 로고    scopus 로고
    • The frequency of lysosomal storage diseases in The Netherlands
    • Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105 (1–2):151–156
    • (1999) Hum Genet , vol.105 , Issue.1-2 , pp. 151-156
    • Poorthuis, B.J.1    Wevers, R.A.2    Kleijer, W.J.3
  • 14
    • 84879693996 scopus 로고    scopus 로고
    • Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): Presentation, diagnosis and management
    • Solanki GA, Martin KW, Theroux MC et al (2013) Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis 36(2):339–355
    • (2013) J Inherit Metab Dis , vol.36 , Issue.2 , pp. 339-355
    • Solanki, G.A.1    Martin, K.W.2    Theroux, M.C.3
  • 15
    • 79956276859 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type IVA (Morquio A disease): Clinical review and current treatment
    • Tomatsu S, Montaño AM, Oikawa H et al (2011) Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol 12(6):931–945
    • (2011) Curr Pharm Biotechnol , vol.12 , Issue.6 , pp. 931-945
    • Tomatsu, S.1    Montaño, A.M.2    Oikawa, H.3
  • 16
    • 0038705149 scopus 로고    scopus 로고
    • Upper airways abnormalities and tracheal problems in Morquio's disease
    • Walker PP, Rose E, Williams JG (2003) Upper airways abnormalities and tracheal problems in Morquio's disease. Thorax 58(5):458–459
    • (2003) Thorax , vol.58 , Issue.5 , pp. 458-459
    • Walker, P.P.1    Rose, E.2    Williams, J.G.3
  • 17
    • 84879696379 scopus 로고    scopus 로고
    • Anaesthesia and airway management in mucopolysaccharidosis
    • Walker R, Belani KG, Braunlin EA et al (2013) Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis 36(2):211–219
    • (2013) J Inherit Metab Dis , vol.36 , Issue.2 , pp. 211-219
    • Walker, R.1    Belani, K.G.2    Braunlin, E.A.3
  • 18
    • 0028916610 scopus 로고
    • The mucopolysaccharidoses: A clinical review and guide to management
    • Wraith JE (1995) The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 72(3):263–267
    • (1995) Arch Dis Child , vol.72 , Issue.3 , pp. 263-267
    • Wraith, J.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.