van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008;372(9646):1342–53.
Article
Google Scholar
van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112(2):332–40.
Article
Google Scholar
van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, et al. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet J Rare Dis. 2016;11(1):65.
Article
Google Scholar
van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006;106(2):82–6.
PubMed
Google Scholar
Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, et al. Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. Neurology. 2017;89(23):2365–73.
Article
CAS
Google Scholar
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113(5):e448–57.
Article
Google Scholar
Güngör D, Kruijshaar ME, Plug I, D’Agostino RB, Hagemans ML, van Doorn PA, 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.
Article
Google Scholar
Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, et al. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2016;39(2):253–60.
Article
Google Scholar
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68(2):99–109.
Article
CAS
Google Scholar
Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, 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):621–30.
Article
CAS
Google Scholar
Broomfield A, Jones SA, Hughes SM, Bigger BW. The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders. J Inherit Metab Dis. 2016;39(4):499–512.
Article
CAS
Google Scholar
van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ. Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. J Inherit Metab Dis. 2015;38(2):305–14.
Article
Google Scholar
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99(1):26–33.
Article
CAS
Google Scholar
de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, et al. Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genet Med. 2017;19(1):90–7.
Article
Google Scholar
de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, et al. High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab. 2010;101(4):338–45.
Article
Google Scholar
Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012;106(3):301–9.
Article
CAS
Google Scholar
Masat E, Laforêt P, De Antonio M, Corre G, Perniconi B, Taouagh N, et al. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients. Sci Rep. 2016;6:36182.
Article
CAS
Google Scholar
Bergsma AJ, In ‘t Groen SLM, van den Dorpel JJA, van den Hout H, van der Beek N, Schoser B, et al. A genetic modifier of symptom onset in Pompe disease. EBioMedicine. 2019;43:553–61.
Article
Google Scholar
Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, et al. Enzyme replacement therapy in late-onset Pompe’s disease: a three-year follow-up. Ann Neurol. 2004;55(4):495–502.
Article
CAS
Google Scholar
van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008;18(6):447–52.
Article
Google Scholar
Niño MY, In ‘t Groen SLM, Bergsma AJ, van der Beek N, Kroos M, Hoogeveen-Westerveld M, et al. Extension of the Pompe mutation database by linking disease-associated variants to clinical severity. Hum Mutat. 2019;40(11):1954–67.
Article
Google Scholar
Poelman E, van den Dorpel JJA, Hoogeveen-Westerveld M, van den Hout JMP, van der Giessen LJ, van der Beek N, et al. Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients. J Inherit Metab Dis. 2020;43(6):1243–53.
Article
CAS
Google Scholar
Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13(8):729–36.
Article
CAS
Google Scholar
Desai AK, Kazi ZB, Bali DS, Kishnani PS. Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy. Mol Genet Metab Rep. 2019;20:100475.
Article
Google Scholar
Poelman E, Hoogeveen-Westerveld M, van den Hout JMP, Bredius RGM, Lankester AC, Driessen GJA, et al. Effects of immunomodulation in classic infantile Pompe patients with high antibody titers. Orphanet J Rare Dis. 2019;14(1):71.
Article
CAS
Google Scholar
Nayak S, Doerfler PA, Porvasnik SL, Cloutier DD, Khanna R, Valenzano KJ, et al. Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent. PLoS ONE. 2014;9(6):e98336.
Article
Google Scholar
van Gelder CM, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek N, Reuser AJJ, et al. Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study. J Inherit Metab Dis. 2016;39(3):383–90.
Article
Google Scholar
Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012;35(5):837–45.
Article
CAS
Google Scholar
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362(15):1396–406.
Article
Google Scholar
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, et al. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT. Mol Genet Metab. 2019;128(1–2):129–36.
Article
Google Scholar
Case LE, Bjartmar C, Morgan C, Casey R, Charrow J, Clancy JP, et al. Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Neuromuscul Disord. 2015;25(4):321–32.
Article
Google Scholar
De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, et al. Immune tolerance-adjusted personalized immunogenicity prediction for Pompe disease. Front Immunol. 2021;12:636731.
Article
Google Scholar
Desai AK, Baloh CH, Sleasman JW, Rosenberg AS, Kishnani PS. Benefits of prophylactic short-course immune tolerance induction in patients with infantile Pompe disease: demonstration of long-term safety and efficacy in an expanded cohort. Front Immunol. 2020;11:1727.
Article
CAS
Google Scholar
van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, et al. Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord. 2010;20(12):775–82.
Article
Google Scholar
Medical Research Council. Aids to the examination of the peripheral nervous system, Memorandum No. 45. London: Her Majesty’s Stationary Office; 1978.
Google Scholar
van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, et al. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis. 2012;35(2):317–23.
Article
Google Scholar
de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, et al. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis. 2012;7:73.
Article
Google Scholar
American Thoracic Society/European Respiratory Society. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002;166(4):518–624.
Article
Google Scholar
Quanjer PH, Stanojevic S, Cole TJ, Baur X, Hall GL, Culver BH, et al. Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations. Eur Respir J. 2012;40(6):1324–43.
Article
Google Scholar