과제정보
This study was supported by a 2022 research grant from Pusan National University Yangsan Hospital, Korea.
참고문헌
- Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017;22:385-406. https://doi.org/10.2741/4490
- Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 Suppl 5:v4-12. https://doi.org/10.1093/rheumatology/ker394
- Wichajarn K, Kim J, Yang A, Sohn YB, Lee BH, Yoo HW, et al. Clinical features, molecular analysis, and outcome of ERT in Korean patients with mucopolysaccharidosis type VI. J Korean Soc Inherit Metab Dis 2016;16:24-33.
- Khoury PR, Mitsnefes M, Daniels SR, Kimball TR. Age-specific reference intervals for indexed left ventricular mass in children. J Am Soc Echocardiogr 2009;22:709-14. https://doi.org/10.1016/j.echo.2009.03.003
- Yang X, Wang H, Dong B, Hu B, Hao X, Chen X, et al. Standard liver volume-predicting formulae derived from normal liver volume in children under 18 years of age. Front Pediatr 2021;9:629645. https://doi.org/10.3389/fped.2021.629645
- Prassopoulos P, Cavouras D. CT assessment of normal splenic size in children. Acta Radiol 1994;35:152-4. https://doi.org/10.3109/02841859409172354
- Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, et al. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene. Hum Mutat 2018;39:1788-802. https://doi.org/10.1002/humu.23613
- Horovitz DDG, Leao EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, et al. Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: a resurvey study. Mol Genet Metab 2021;133:94-9. https://doi.org/10.1016/j.ymgme.2021.02.006
- Kampmann C, Lampe C, Whybra-Trumpler C, Wiethoff CM, Mengel E, Arash L, et al. Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy. J Inherit Metab Dis 2014;37:269-76. https://doi.org/10.1007/s10545-013-9649-4
- Buyukgebiz B, Eroglu Y, Kovanlikaya I, Sen A, Buyukgebiz A. Maroteaux-Lamy syndrome associated with growth hormone deficiency. J Pediatr Endocrinol Metab 1995;8:305-7. https://doi.org/10.1515/jpem.1995.8.4.305
- Alliston T. Chondroitin sulfate and growth factor signaling in the skeleton: possible links to MPS VI. J Pediatr Rehabil Med 2010;3:129-38. https://doi.org/10.3233/PRM-2010-0117
- Decker C, Yu ZF, Giugliani R, Schwartz IV, Guffon N, Teles EL, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010;3:89-100.
- Cattoni A, Motta S, Masera N, Gasperini S, Rovelli A, Parini R. The use of recombinant human growth hormone in patients with mucopolysaccharidoses and growth hormone deficiency: a case series. Ital J Pediatr 2019;45:93. https://doi.org/10.1186/s13052-019-0691-1
- Polgreen LE, Miller BS. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010;3:25-38. https://doi.org/10.3233/PRM-2010-0106
- Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P. Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). JIMD Rep 2015;18:1-11. https://doi.org/10.1007/8904_2014_333