REFERENCES
- Weinreb NJ,Charrow J, Anderson HC et al Effectiveness of en-zyme repEacement therapy in 1028 patients with type 1 Gau-cher disease after 2 to 5 years of treatment. A report from the Gaucher Registry. Am J Med 2002; 113:112–9.
- Cox T, Lachmann R, HoRak C et al NoveE oraE treatment of Gaucher's disease with N-butykleoyjirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355: 1481–5.
- Elstein D, Hollak C, Aerts JM et al. Sustained therapeutic effects of oral miglustat (Zavesca) in type 1 Gaucher disease. J Inherit Metab Dis 2004; 27: 757–66.
- Eng CM, Guffon N, Wilcox WR et al. Safety and effi cacy of recombinant human alfa-galactosidase. A replacement therapy in Fabry�s disease. New Engl J Med 2001; 345: 9–16.
- Schiffmann R, Kopp JB, Austin III HA et al. Enzyme replacement therapy in Fabry disease. Randomised controlled trial. JAMA 2001; 285: 2743–9.
- Wraith JE, Clarke LA, Beck M et al. Enzyme replacement thera-py for mucopolysaccharidosis k a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alfa-L-iduronidase (Laronidase). J Pediatr 2004; 144: 581–8.
- Hagemans ML, Jansssens AC, Winkel LP et al. Late-onset Pom-pe disease primarily affects quality of life in physical health domains. Neurology 2004; 63: 1688–92.
- Winkel LP, Van den Hout JM, Kamphoven JH et al. Enzyme re-placement therapy in late-onset Pompe's disease: a three year follow-up. Ann Neurol 2004; 55:495–502.