Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

Hirschhorn, 2001, Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency, 3389 Engel, 1994, Acid maltase deficiency, 1533 Winkel, 2005, The natural course of non-classic Pompe’s disease; a review of 225 published cases, J Neurol, 252, 875, 10.1007/s00415-005-0922-9 Hagemans, 2005, Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients, Brain, 128, 671, 10.1093/brain/awh384 van den Hout, 2003, The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature, Pediatrics, 112, 332, 10.1542/peds.112.2.332 Kishnani, 2006, A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease, J Pediatr, 148, 671, 10.1016/j.jpeds.2005.11.033 Hagemans, 2006, Course of disability and respiratory function in untreated late-onset Pompe disease, Neurology, 66, 581, 10.1212/01.wnl.0000198776.53007.2c Hagemans, 2005, Disease severity in children and adults with Pompe disease related to age and disease duration, Neurology, 64, 2139, 10.1212/01.WNL.0000165979.46537.56 Reuser, 1995, Glycogenosis type II (acid maltase deficiency), Muscle Nerve, 3, S61, 10.1002/mus.880181414 Van den Hout, 2001, Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk, J Inherit Metab Dis, 24, 266, 10.1023/A:1010383421286 Van den Hout, 2004, Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk, Pediatrics, 113, e448, 10.1542/peds.113.5.e448 Klinge, 2005, Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study, Neuropediatrics, 36, 6, 10.1055/s-2005-837543 Klinge, 2005, Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial, Neuromuscul Disord, 15, 24, 10.1016/j.nmd.2004.10.009 Amalfitano, 2001, Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial, Genet Med, 3, 132, 10.1097/00125817-200103000-00008 Van den Hout, 2000, Recombinant human alpha-glucosidase from rabbit milk in Pompe patients, Lancet, 356, 397, 10.1016/S0140-6736(00)02533-2 Kishnani, 2006, Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease, J Pediatr, 149, 89, 10.1016/j.jpeds.2006.02.035 Kishnani, 2007, Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease, Neurology, 68, 99, 10.1212/01.wnl.0000251268.41188.04 Winkel, 2004, Enzyme replacement therapy in late-onset Pompe’s disease: a three-year follow-up, Ann Neurol, 55, 495, 10.1002/ana.20019 Hagemans, 2007, Fatigue: an important feature of late-onset Pompe disease, J Neurol, 254, 941, 10.1007/s00415-006-0434-2 Hagemans, 2004, Late-onset Pompe disease primarily affects quality of life in physical health domains, Neurology, 63, 1688, 10.1212/01.WNL.0000142597.69707.78 Winkel, 2003, Morphological changes in muscle tissue of patients with infantile Pompe’s disease receiving enzyme replacement therapy, Muscle Nerve, 27, 743, 10.1002/mus.10381 Kroos, 2007, Broad spectrum of Pompe disease in patients with the same c-32-13T→G haplotype, Neurology, 68, 110, 10.1212/01.wnl.0000252798.25690.76 Huie, 1994, Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T→G) mutation in a majority of patients and a novel IVS10 (+1GT→CT) mutation, Hum Mol Genet, 3, 2231, 10.1093/hmg/3.12.2231 Montalvo, 2006, Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II, Hum Mutat, 27, 999, 10.1002/humu.20374 Mellies, 2001, Sleep-disordered breathing and respiratory failure in acid maltase deficiency, Neurology, 57, 1290, 10.1212/WNL.57.7.1290 Mellies, 2005, Respiratory failure in Pompe disease: treatment with noninvasive ventilation, Neurology, 64, 1465, 10.1212/01.WNL.0000158682.85052.C0 Beenakker, 2001, Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry, Neuromuscul Disord, 11, 441, 10.1016/S0960-8966(01)00193-6 van der Ploeg RJO. Hand-held dynamometry (Thesis). Department of Neurology. University of Groningen, Groningen, The Netherlands 1992. p. 92. Russell D, Rosenbaum P, Gowland C, et al. Gross motor function measure manual 2nd ed. Hamilton, Ontario, Canada. McMaster University; 1993.