Bibliographic References:
[1] Neufeld EF, Muenzer, J. The mucopolysaccharidoses. Metab. Mol. Bases Inherit. Dis. , New York, NY: McGraw Hill; 2001;3421-3452.
[2] Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007. doi:10.1542/peds.2006-2184.
[3] Jurecka A, Golda A, Opoka-Winiarska V, Piotrowska E, Tylki-Szymańska A. Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab2011. doi:10.1016/j.ymgme.2011.08.024.
[4] Meikle P, Hopwood J, Clague A, Carey W. La prevalencia de los trastornos de almacenamiento lisosomal. J Am Med Assoc1999;281:249-254.
[5] 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;39:1788-1802. doi:10.1002/humu.23613.
[6] Silipo A, Zhang Z, Cañada FJ, Molinaro A, Linhardt RJ, Jiménez-Barbero J. Conformational analysis of a dermatan sulfate-derived tetrasaccharide by NMR, molecular modeling, and residual dipolar couplings. ChemBioChem 2008. doi:10.1002/cbic.200700400.
[7] Simonaro CM, Haskins ME, Schuchman EH. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: A possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab Investig 2001. doi:10.1038/labinvest.3780345.
[8] Simonaro CM, D’Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: Identification of new therapeutic targets and BioMarkers using animal models. Pediatr Res 2005. doi:10.1203/01.PDR.0000156510.96253.5A.
[9] Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, et al . 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 2005. doi:10.1002/ajmg.a.30579.
[10] Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010. doi:10.1186/1750-1172-5-5.
[11] Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ,et al . Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis 2013. doi:10.1007/s10545-013-9587-1.
[12] Giugliani R, Gutierrez Carvalho C, Herber S, Lapagesse de Camargo Pinto L. Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI. Curr Pharm Biotechnol 2011. doi:10.2174/138920111795542688.
[13] Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, et al . 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 2014. doi:10.1002/ajmg.a.36584.
[14] Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, et al . Recommendations for the management of MPS IVA: Systematic evidence and consensus-based guidance. Orphanet J Rare Dis 2019;14:1-21. doi:10.1186/s13023-019-1074-9.
[15] Harmatz P, Giugliani R, Ida IV, Guffon N, Teles EL, Miranda MCS, et al . 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 2008. doi:10.1016/j.ymgme.2008.04.001.
[16] Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, et al . Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan. J Inherit Metab Dis 2010. doi:10.1007/s10545-010-9212-5.
[17] Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ,et al . Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series. Mol Genet Metab Reports 2016. doi:10.1016/j.ymgmr.2016.04.003.
[18] Guffon N, Journeau P, Brassier A, Leger J, Chevallier B. Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. Eur J Pediatr 2019;178:593-603. doi:10.1007/s00431-019-03330-x.
[19] Scarpa M, Barone R, Fiumara A, Astarita L, Parenti G, Rampazzo A, et al . Mucopolysaccharidosis VI: The Italian experience.Eur J Pediatr 2009. doi:10.1007/s00431-008-0910-z.
[20] Quartel A, Harmatz PR, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, et al . Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome). J Inborn Errors Metab Screen2018;6:232640981875580. doi:10.1177/2326409818755800.
[21] Lin HY, Lee CL, Chiu PC, Niu DM, Tsai FJ, Hwu WL, et a l. Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses.Diagnostics 2019;9:1-11. doi:10.3390/diagnostics9040148.
[22] Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, et al . 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 Roberto. Am J Med Genet A 2014;164:1953-1964. doi:10.1002/ajmg.a.36584.Natural.