Frequency of glycogen storage disease type II in the Netherlands: Implications for diagnosis and genetic counselling
Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in the Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-716.
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
Martiniuk F, Chen A, Arvanitopoulos E, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998;79: 69-72.
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
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.
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk
Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004;113:e448-e457.
Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up
Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 2004;55:495-502.
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: Results of a phase II clinical trial
Hinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromusc Disord 2005;15:24-31.
Late-onset Pompe disease primarily affects quality of life in physical health domains
Hagemans ML, Janssens AC, Winkel LP, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004;63:1688-1692.
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128:671-677.
Identification of two subtypes of infantile acid maltase deficiency
Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000;137:283-285.