Body composition and 6 minute walking ability in late-onset pompe disease patients after 9 years of enzyme replacement therapy

References

• Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267–288.
   PubMed Web of Science ®Google Scholar
• Hagemans MLC, Winkel LPF, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;128(Pt 3):671–677.
   PubMedGoogle Scholar
• van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008;372(9646):1342–1353.
   PubMed Web of Science ®Google Scholar
• Katzin LW, Amato AA. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. J Clin Neuromuscul Dis. 2008;9(4):421–431.
   PubMedGoogle Scholar
• Müller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17(9–10):698–706.
   PubMed Web of Science ®Google Scholar
• Kroos M, Manta P, Mavridou I, et al. Seven cases of Pompe disease from Greece. J Inherit Metab Dis. 2006;29(4):556–563.
   PubMed Web of Science ®Google Scholar
• Hagemans MLC, Hop WJC, Van Doorn PA, et al. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006;66(4):581–583.
   PubMed Web of Science ®Google Scholar
• Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med. 2009;103(4):477–484.
   PubMed Web of Science ®Google Scholar
• Strothotte S, Strigl-Pill N, Grunert B, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol. 2010;257(1):91–97.
   PubMed Web of Science ®Google Scholar
• Anderson LJ, Henley W, Wyatt KM, et al. Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014;37(6):945–952.
   PubMed Web of Science ®Google Scholar
• Angelini C, Semplicini C, Ravaglia S, et al. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol. 2012;259(5):952–958.
   PubMed Web of Science ®Google Scholar
• Güngör D, Kruijshaar ME, Plug I, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49. Published 2013 Mar 27.
   PubMed Web of Science ®Google Scholar
• Kuperus E, Kruijshaar ME, Wens SCA, et al. Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. Neurology. 2017;89(23):2365–2373.
   PubMed Web of Science ®Google Scholar
• Stepien KM, Hendriksz CJ, Roberts M, et al. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years. Mol Genet Metab. 2016;117(4):413–418.
   PubMed Web of Science ®Google Scholar
• Schoser B, Stewart A, Kanters S, et al. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. 2017;264(4):621–630.
   PubMed Web of Science ®Google Scholar
• Harlaar L, Hogrel JY, Perniconi B, et al. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology. 2019;93(19):e1756–e1767.
   PubMedGoogle Scholar
• Papadimas GK, Terzis G, Methenitis S, et al. Body composition analysis in late-onset Pompe disease. Mol Genet Metab. 2011;102(1):41–43.
   PubMed Web of Science ®Google Scholar
• Terzis G, Dimopoulos F, Papadimas GK, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011;104(3):279–283.
   PubMed Web of Science ®Google Scholar
• van den Berg LE, Zandbergen AA, van Capelle CI, et al. Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone. 2010;47(3):643–649.
   PubMed Web of Science ®Google Scholar
• Bettis T, Kim BJ, Hamrick MW. Impact of muscle atrophy on bone metabolism and bone strength: implications for muscle-bone crosstalk with aging and disuse. Osteoporos Int. 2018;29(8):1713–1720.
   PubMed Web of Science ®Google Scholar
• Dalsky GP, Stocke KS, Ehsani AA, et al. Weight-bearing exercise training and lumbar bone mineral content in postmenopausal women. Ann Intern Med. 1988;108(6):824–828. Jr.
   PubMed Web of Science ®Google Scholar
• Papadimas GK, Terzis G, Spengos K, et al. Bone mineral density in adult patients with Pompe disease. Bone. 2011;48(2):417–419.
   PubMed Web of Science ®Google Scholar
• Enright PL, Sherrill DL. Reference equations for the six-minute walk in healthy adults. Am J Respir Crit Care Med. 1998;158(5 Pt 1):1384–1387.
   PubMed Web of Science ®Google Scholar
• Wokke JH, Escolar DM, Pestronk A, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008;38(4):1236–1245; Cheng XG, Lowet G, Boonen S, et al. Assessment of the strength of proximal femur in vitro: relationship to femoral bone mineral density and femoral geometry. Bone. 1997;20(3):213–8.
   Google Scholar
• Bertoldo F, Zappini F, Brigo M, et al. Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab. 2015;100(2):401–406.
   PubMed Web of Science ®Google Scholar
• Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006;8(5):318–327.
   PubMed Web of Science ®Google Scholar
• Gross TS, Poliachik SL, Prasad J, et al. The effect of muscle dysfunction on bone mass and morphology. J Musculoskelet Neuronal Interact. 2010;10(1):25–34.
   PubMed Web of Science ®Google Scholar
• Johnstone AM, Murison SD, Duncan JS, et al. Factors influencing variation in basal metabolic rate include fat-free mass, fat mass, age, and circulating thyroxine but not sex, circulating leptin, or triiodothyronine. Am J Clin Nutr. 2005;82(5):941–948.
   PubMed Web of Science ®Google Scholar
• Imboden MT, Welch WA, Swartz AM, et al. Reference standards for body fat measures using GE dual energy x-ray absorptiometry in Caucasian adults. PLoS One. 2017;12(4):e0175110.
   PubMed Web of Science ®Google Scholar
• Tarnopolsky MA, Nilsson MI. Nutrition and exercise in Pompe disease. Ann Transl Med. 2019;7(13):282.
   PubMed Web of Science ®Google Scholar