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PY - 2008 DA - 2008// TI - 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 JO - Mol Genet Metab VL - 94 UR - https://doi.org/10.1016/j.ymgme.2008.04.001 DO - 10.1016/j.ymgme.2008.04.001 ID - Harmatz2008 ER - TY - JOUR AU - Lin, H. Y. AU - Chuang, C. K. AU - Wang, C. H. AU - Chien, Y. H. AU - Wang, Y. M. AU - Tsai, F. J. PY - 2016 DA - 2016// TI - Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: a case series JO - Mol Genet Metab Rep VL - 7 UR - https://doi.org/10.1016/j.ymgmr.2016.04.003 DO - 10.1016/j.ymgmr.2016.04.003 ID - Lin2016 ER - TY - JOUR AU - Harmatz, P. AU - Whitley, C. B. AU - Wang, R. Y. AU - Bauer, M. AU - Song, W. AU - Haller, C. PY - 2018 DA - 2018// TI - A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease JO - Mol Genet Metab VL - 123 UR - https://doi.org/10.1016/j.ymgme.2018.02.006 DO - 10.1016/j.ymgme.2018.02.006 ID - Harmatz2018 ER - TY - JOUR AU - Sawamoto, K. AU - Stapleton, M. AU - Alméciga-Díaz, C. J. AU - Espejo-Mojica, A. J. AU - Losada, J. C. AU - Suarez, D. A. PY - 2019 DA - 2019// TI - Therapeutic options for mucopolysaccharidoses: current and emerging treatments JO - Drugs VL - 79 UR - https://doi.org/10.1007/s40265-019-01147-4 DO - 10.1007/s40265-019-01147-4 ID - Sawamoto2019 ER - TY - JOUR AU - Al-Sannaa, N. A. AU - Bay, L. AU - Barbouth, D. S. AU - Benhayoun, Y. AU - Goizet, C. AU - Guelbert, N. PY - 2015 DA - 2015// TI - Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0344-4 DO - 10.1186/s13023-015-0344-4 ID - Al-Sannaa2015 ER - TY - JOUR AU - Furujo, M. AU - Kosuga, M. AU - Okuyama, T. PY - 2017 DA - 2017// TI - Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up JO - Mol Genet Metab Rep VL - 13 UR - https://doi.org/10.1016/j.ymgmr.2017.08.007 DO - 10.1016/j.ymgmr.2017.08.007 ID - Furujo2017 ER - TY - JOUR AU - Chien, Y. H. AU - Lee, N. C. AU - Chen, P. W. AU - Yeh, H. Y. AU - Gelb, M. H. AU - Chiu, P. C. 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PY - 2018 DA - 2018// TI - Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan JO - Orphanet J Rare Dis VL - 13 UR - https://doi.org/10.1186/s13023-018-0816-4 DO - 10.1186/s13023-018-0816-4 ID - Chuang2018 ER - TY - JOUR AU - Lin, S. P. AU - Lin, H. Y. AU - Wang, T. J. AU - Chang, C. Y. AU - Lin, C. H. AU - Huang, S. F. PY - 2013 DA - 2013// TI - A pilot newborn screening program for mucopolysaccharidosis type I in Taiwan JO - Orphanet J Rare Dis VL - 8 UR - https://doi.org/10.1186/1750-1172-8-147 DO - 10.1186/1750-1172-8-147 ID - Lin2013 ER - TY - JOUR AU - Chuang, C. K. AU - Lin, S. P. AU - Lee, S. J. AU - Wang, T. J. PY - 2002 DA - 2002// TI - MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes JO - J Clin Lab Anal VL - 16 UR - https://doi.org/10.1002/jcla.10051 DO - 10.1002/jcla.10051 ID - Chuang2002 ER - TY - JOUR AU - Chuang, C. K. 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PY - 2012 DA - 2012// TI - Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry JO - Eur J Pediatr VL - 171 UR - https://doi.org/10.1007/s00431-011-1644-x DO - 10.1007/s00431-011-1644-x ID - D'Aco2012 ER - TY - JOUR AU - Parini, R. AU - Jones, S. A. AU - Harmatz, P. R. AU - Giugliani, R. AU - Mendelsohn, N. J. PY - 2016 DA - 2016// TI - The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) JO - Mol Genet Metab VL - 117 UR - https://doi.org/10.1016/j.ymgme.2016.01.009 DO - 10.1016/j.ymgme.2016.01.009 ID - Parini2016 ER - TY - JOUR AU - Truxal, K. V. AU - Fu, H. AU - McCarty, D. M. AU - McNally, K. A. AU - Kunkler, K. L. AU - Zumberge, N. A. PY - 2016 DA - 2016// TI - A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: implications for clinical trial design JO - Mol Genet Metab VL - 119 UR - https://doi.org/10.1016/j.ymgme.2016.08.002 DO - 10.1016/j.ymgme.2016.08.002 ID - Truxal2016 ER - TY - JOUR AU - Montaño, A. M. AU - Tomatsu, S. AU - Gottesman, G. S. AU - Smith, M. AU - Orii, T. PY - 2007 DA - 2007// TI - International Morquio A Registry: clinical manifestation and natural course of Morquio A disease JO - J Inherit Metab Dis VL - 30 UR - https://doi.org/10.1007/s10545-007-0529-7 DO - 10.1007/s10545-007-0529-7 ID - Montaño2007 ER - TY - JOUR AU - Lin, H. Y. AU - Lee, C. L. AU - Lo, Y. T. AU - Tu, R. Y. AU - Chang, Y. H. AU - Chang, C. Y. 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PY - 2016 DA - 2016// TI - Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 JO - Orphanet J Rare Dis VL - 11 UR - https://doi.org/10.1186/s13023-016-0471-6 DO - 10.1186/s13023-016-0471-6 ID - Lin2016 ER - TY - JOUR AU - Jones, S. A. AU - Almássy, Z. AU - Beck, M. AU - Burt, K. AU - Clarke, J. T. AU - Giugliani, R. PY - 2009 DA - 2009// TI - Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS) JO - J Inherit Metab Dis VL - 32 UR - https://doi.org/10.1007/s10545-009-1119-7 DO - 10.1007/s10545-009-1119-7 ID - Jones2009 ER - TY - JOUR AU - Sohn, Y. B. AU - Choi, E. W. AU - Kim, S. J. AU - Park, S. W. AU - Kim, S. H. AU - Cho, S. Y. AU - Jeong, S. I. PY - 2012 DA - 2012// TI - Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases JO - Am J Med Genet A VL - 158A UR - https://doi.org/10.1002/ajmg.a.34371 DO - 10.1002/ajmg.a.34371 ID - Sohn2012 ER - TY - JOUR AU - Lavery, C. AU - Hendriksz, C. J. AU - Jones, S. A. PY - 2017 DA - 2017// TI - Mortality in patients with Sanfilippo syndrome JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0717-y DO - 10.1186/s13023-017-0717-y ID - Lavery2017 ER - TY - JOUR AU - Lin, H. Y. AU - Chuang, C. K. AU - Lee, C. L. AU - Tu, R. Y. AU - Lo, Y. T. AU - Chiu, P. C. PY - 2018 DA - 2018// TI - Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period JO - Am J Med Genet A VL - 176A UR - https://doi.org/10.1002/ajmg.a.40351 DO - 10.1002/ajmg.a.40351 ID - Lin2018 ER - TY - JOUR AU - Lavery, C. AU - Hendriksz, C. PY - 2015 DA - 2015// TI - Mortality in patients with Morquio syndrome A JO - JIMD Rep VL - 15 ID - Lavery2015 ER - TY - JOUR AU - Lin, H. Y. AU - Chuang, C. K. AU - Chen, M. R. AU - Chiu, P. C. AU - Ke, Y. Y. AU - Niu, D. M. PY - 2014 DA - 2014// TI - Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA JO - Orphanet J Rare Dis VL - 9 UR - https://doi.org/10.1186/1750-1172-9-21 DO - 10.1186/1750-1172-9-21 ID - Lin2014 ER - TY - JOUR AU - Giugliani, R. AU - Lampe, C. AU - Guffon, N. AU - Ketteridge, D. AU - Leão-Teles, E. AU - Wraith, J. E. 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