참고문헌
- Dorfman A, Arbogast B, Matalon R. The enzymic defects in Morquio and Maroteaux-Lamy syndrome. Adv Exp Med Biol 1976;68:261-76.
- Neufeld EF, Muenzer J. The mucopolysaccharidosis. In: Scriver CR, editor. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995:2465-94.
- Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet 2004;49:490-4.
- 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.
- Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995;72:263-7.
- Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 2007;30:165-74.
- Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 1996;19:357-65.
- Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999;105:151-6.
- Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 2003;123A:310-3.
- Glossl J, Maroteaux P, Di Natale P, Kresse H. Different properties of residual N-acetylgalactosamine-6-sulfate sulfatase in fibroblasts from patients with mild and severe forms of Morquio disease type A. Pediatr Res 1981;15:976-8.
- Beck M, Glossl J, Grubisic A, Spranger J. Heterogeneity of Morquio disease. Clin Genet 1986;29:325-31.
- Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, et al. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 1991;181:677-83.
- Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, et al. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. Genomics 1994;20:99-104.
- Hur J, Lee HJ, Whang JH, Kim HJ, Kim CY. Morquio's syndrome accompanied by respiratory failure. J Korean Pediatr Soc 1997;40:1015-20.
- Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, et al. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum Mutat 1998;11:202-8.
- Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, et al. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum Mutat 1997;10:368-75.
- Lee SY, Nam CM, Kim JH, Oh KW, Kim YN, Kang YJ, et al. Development of growth curve and the criteria of obesity in Korean children and adolescents. Gwacheon: Ministry of Health and Welfare, 2007.
- Montano AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio A disease. Am J Med Genet A 2008;146A:1286-95.
- Li MF, Chiu PC, Weng MJ, Lai PH. Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol 2010;67:1530.
- Goidanich IF, Lenzi L. Morquio-Ullrich disease. A new mucopolysaccharidosis. J Bone Joint Surg Am 1964;46:734-46.
- Singh S, Petrie JG, Pirozynski WJ. Clini copathological review of ten cases of Morquio's disease. Can J Surg 1962;5:404-10.
- Tomatsu S, Montano AM, Nishioka T, Gutierrez MA, Pena OM, Tranda Firescu GG, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat 2005;26: 500-12.
- Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK. Clinical and laboratory features of Korean mucopolysaccharidoses (MPSs). Korean J Pediatr 2005;48:1132-8.
- Tomatsu S, Montano AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, et al. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet 2008;17:815-24.
- Dvorak-Ewell M, Wendt D, Hague C, Christianson T, Koppaka V, Crippen D, et al. Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. PLoS One 2010;5:e12194.
피인용 문헌
- Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA vol.9, pp.None, 2014, https://doi.org/10.1186/1750-1172-9-21
- An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network vol.3, pp.3, 2012, https://doi.org/10.5582/irdr.2014.01013
- GALNS mutations in Indian patients with mucopolysaccharidosis IVA vol.164, pp.11, 2014, https://doi.org/10.1002/ajmg.a.36735
- Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA vol.11, pp.None, 2012, https://doi.org/10.2147/tacg.s141881