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Considerations for evaluating the effectiveness and longterm outcome of enzyme replacement therapy in Pompe disease

  • Cheon, Chong Kun (Department of Pediatrics, Pusan National University Children's Hospital)
  • Received : 2018.12.31
  • Accepted : 2019.07.31
  • Published : 2020.01.15

Abstract

Keywords

References

  1. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144(5 Suppl):S35-43. https://doi.org/10.1016/j.jpeds.2004.01.053
  2. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148:671-6. https://doi.org/10.1016/j.jpeds.2005.11.033
  3. Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128(Pt 3): 671-7. https://doi.org/10.1093/brain/awh384
  4. Laforet P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, et al. Juvenile and adult-onset acid maltase deficiency in France: genotypephenotype correlation. Neurology 2000;55:1122-8. https://doi.org/10.1212/WNL.55.8.1122
  5. Chen M, Zhang L, Quan S. Enzyme replacement therapy for infantileonset Pompe disease. Cochrane Database Syst Rev 2017;11: CD011539.
  6. Kim MS, Song A, Im M, Huh J, Kang IS, Song J, et al. Clinical and molecular characterization of Korean children with infantile and lateonset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center. Korean J Pediatr 2019;62:224-34. https://doi.org/10.3345/kjp.2018.06968
  7. ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med 2002;166:111-7. https://doi.org/10.1164/ajrccm.166.1.at1102
  8. Weisman IM, Zeballos RJ. An integrated approach to the interpretation of cardiopulmonary exercise testing. Clin Chest Med 1994;15: 421-45. https://doi.org/10.1016/S0272-5231(21)01082-0
  9. Solway S, Brooks D, Lacasse Y, Thomas S. A qualitative systematic overview of the measurement properties of functional walk tests used in the cardiorespiratory domain. Chest 2001;119:256-70. https://doi.org/10.1378/chest.119.1.256
  10. Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, et al. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet 2012;160C:40-9. https://doi.org/10.1002/ajmg.c.31319