Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Inborn Errors of Metabolism with Bony Manifestation

  • Huh, Rimm (Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine)
  • Published : 2014.06.30
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Abstract

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References

  1. Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23:328-32. https://doi.org/10.1136/jmg.23.4.328
  2. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011;155A:943-68.
  3. Neufeld EF, Muenzer J. The mucopolysaccharidoses. New York: Graw-Hill, 1995.
  4. Lampe C, Bellettato CM, Karabul N, Scarpa M. Mucopolysaccharidoses and other lysosomal storage diseases. Rheum Dis Clin North Am 2013;39: 431-55. https://doi.org/10.1016/j.rdc.2013.03.004
  5. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4-12. https://doi.org/10.1093/rheumatology/ker394
  6. Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v41-8. https://doi.org/10.1093/rheumatology/ker390
  7. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v19-25. https://doi.org/10.1093/rheumatology/ker397
  8. Martins AM, Dualibi AP, Norato D, Takata ET, Santos ES, Valadares ER, et al. Guidelines for the management of mucopolysaccharidosis type I. J Pediatr 2009;155:S32-46. https://doi.org/10.1016/j.jpeds.2009.07.005
  9. Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalas O, Pinto LL, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol 2010;33:589-604. https://doi.org/10.1590/S1415-47572010005000093
  10. Beck M. Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment. Curr Pharm Biotechnol 2011;12:861-6. https://doi.org/10.2174/138920111795542714
  11. White KK, Karol LA, White DR, Hale S. Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III). J Pediatr Orthop 2011;31:594-8. https://doi.org/10.1097/BPO.0b013e31821f5ee9
  12. Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab 2013;110:54-64. https://doi.org/10.1016/j.ymgme.2013.04.002
  13. Tomatsu S, Montano AM, Oikawa H, Smith M, Barrera L, Chinen Y, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol 2011;12:931-45. https://doi.org/10.2174/138920111795542615
  14. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010;5:5. https://doi.org/10.1186/1750-1172-5-5
  15. Harmatz P. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures. Turk J Pediatr 2010;52:443-9.
  16. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med (Lond) 2011;72:91-5. https://doi.org/10.12968/hmed.2011.72.2.91
  17. da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). Cochrane Database Syst Rev 2011:CD008185.
  18. de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis 2011;6:55. https://doi.org/10.1186/1750-1172-6-55
  19. Jameson E, Jones S, Wraith JE. Enzyme replacement therapy with laronidase (Aldurazyme((R))) for treating mucopolysaccharidosis type I. Cochrane Database Syst Rev 2013;11:CD009354.
  20. Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, et al. Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). Orphanet J Rare Dis 2013;8:42. https://doi.org/10.1186/1750-1172-8-42
  21. Wraith JE. Mucopolysaccharidoses and mucolipidoses. Handb Clin Neurol 2013;113:1723-9. https://doi.org/10.1016/B978-0-444-59565-2.00042-3
  22. Ahn SY, Chang YS, Sung DK, Ko AR, Kim CH, Yoo DK, et al. High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. J Hum Genet 2013;58:728-33. https://doi.org/10.1038/jhg.2013.92
  23. Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, et al. Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. Am J Med Genet A 2013;161A:1036-43.
  24. Jung SC, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV 2/8 vector-mediated gene therapy. Mol Cells 2010; 30:13-8. https://doi.org/10.1007/s10059-010-0083-2