Hirschhorn R, Reuser AJ: Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. The Metabolic and Molecular Bases of Inherited Disease. Edited by: CR Scriver BA, Sly W, Valle D. 8th edition. New York: McGraw-Hill; 2001:3389-3420.
Google Scholar
Wagner KR: Enzyme replacement for infantile Pompe disease: the first step toward a cure. Neurology. 2007, 68: 88-89. 10.1212/01.wnl.0000253226.13795.40.
Article
PubMed
Google Scholar
Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT: Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 2000, 356: 397-398. 10.1016/S0140-6736(00)02533-2.
Article
CAS
PubMed
Google Scholar
Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT: Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001, 24: 266-274. 10.1023/A:1010383421286.
Article
CAS
PubMed
Google Scholar
Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, Bauer MS: Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009, 66: 329-335. 10.1203/PDR.0b013e3181b24e94.
Article
CAS
PubMed Central
PubMed
Google Scholar
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT: Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012, 35: 505-511. 10.1007/s10545-011-9404-7.
Article
CAS
PubMed Central
PubMed
Google Scholar
Engel A, Hirschhorn R, Huie ML: Acid maltase deficiency. Myology. 3rd edition. Edited by: Engel AF-AC. New York: McGraw-Hill; 2004.
Google Scholar
van der Ploeg AT, Reuser AJ: Pompe’s disease. Lancet. 2008, 372: 1342-1353. 10.1016/S0140-6736(08)61555-X.
Article
CAS
PubMed
Google Scholar
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL: A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010, 362: 1396-1406. 10.1056/NEJMoa0909859.
Article
CAS
PubMed
Google Scholar
de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC: 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: 73-10.1186/1750-1172-7-73.
Article
PubMed Central
PubMed
Google Scholar
Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S: 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: 91-97. 10.1007/s00415-009-5275-3.
Article
CAS
PubMed
Google Scholar
Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A: Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis. 2010, 33: 727-735. 10.1007/s10545-010-9201-8.
Article
CAS
PubMed
Google Scholar
Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G: Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol. 2012, 259: 952-958. 10.1007/s00415-011-6293-5.
Article
CAS
PubMed
Google Scholar
Orlikowski D, Pellegrini N, Prigent H, Laforet P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D: Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord. 2011, 21: 477-482. 10.1016/j.nmd.2011.04.001.
Article
PubMed
Google Scholar
Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Muller-Felber W, Glocker FX, Spranger M, Deschauer M: 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012, 35: 837-845. 10.1007/s10545-012-9451-8.
Article
CAS
PubMed
Google Scholar
Gungor D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, Hagemans ML: Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011, 6: 34-10.1186/1750-1172-6-34.
Article
PubMed Central
PubMed
Google Scholar
Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT: Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain. 2005, 128: 671-677. 10.1093/brain/awh384.
Article
CAS
PubMed
Google Scholar
Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT: Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005, 64: 2139-2141. 10.1212/01.WNL.0000165979.46537.56.
Article
CAS
PubMed
Google Scholar
Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, Van der Ploeg AT: Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology. 2004, 63: 1688-1692. 10.1212/01.WNL.0000142597.69707.78.
Article
CAS
PubMed
Google Scholar
Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S: Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006, 149: 89-97. 10.1016/j.jpeds.2006.02.035.
Article
CAS
PubMed Central
PubMed
Google Scholar
Suissa S: Immortal time bias in observational studies of drug effects. Pharmacoepidemiol Drug Saf. 2007, 16: 241-249. 10.1002/pds.1357.
Article
PubMed
Google Scholar
Concato J, Shah N, Horwitz RI: Randomized, controlled trials, observational studies, and the hierarchy of research designs. N Engl J Med. 2000, 342: 1887-1892. 10.1056/NEJM200006223422507.
Article
CAS
PubMed Central
PubMed
Google Scholar