Free Access
Med Sci (Paris)
Volume 21, Décembre 2005
Métabolisme glucidolipidique et risque cardiovasculaire: Nouvelle approches
Page(s) 77 - 83
Section M/S revues
Published online 15 November 2005
  1. Hers HG. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease). Biochem J 1963; 86 : 11–6. [Google Scholar]
  2. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem Biophys Res Commun 1965; 18 : 221–5. [Google Scholar]
  3. Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science 1970; 169 : 141–6. [Google Scholar]
  4. Mistry PK. Gaucher’s disease : a model for modern management of a genetic disease. J Hepatol 1999; 30 (suppl 1) : 1–5. [Google Scholar]
  5. Germain DP. Gaucher’s disease : a paradigm for interventional genetics. Clin Genet 2004; 65: 77–86 [Google Scholar]
  6. Stahl P, Schlesinger PH, Sigardson E, et al. Receptor-mediated pinocytosis of mannose glycoconjugates by macrophages : characterization and evidence for receptor recycling. Cell 1980; 19 : 207–15. [Google Scholar]
  7. Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990; 87 : 1913–6. [Google Scholar]
  8. Grabowski G, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease : comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995; 122 : 33–9. [Google Scholar]
  9. Pastores G, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41 : 4–14. [Google Scholar]
  10. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1 : revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41 : 15–22. [Google Scholar]
  11. Hollak CM, Aerts J, Goudsmit R, et al. Individualised low-dose alglucerase therapy for type 1 Gaucher’s disease. Lancet 1995; 345 : 1474–8. [Google Scholar]
  12. Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med 2005; 7 : 105–10. [Google Scholar]
  13. Cox TM, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355 : 1481–5. [Google Scholar]
  14. Bach G, Friedman R, Weissmann B, Neufeld EF. The defect in the Hurler and Scheie syndromes : deficiency of -L-iduronidase. Proc Natl Acad Sci USA 1972; 69 : 2048–51. [Google Scholar]
  15. Guffon N, Souillet G, Maire I, et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998; 133 : 119–25. [Google Scholar]
  16. Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I : a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144 : 581–8. [Google Scholar]
  17. Kakkis E, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344 : 182–8. [Google Scholar]
  18. Wraith JE, Hopwood J, Fuller M, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 2005; 19 : 1–7. [Google Scholar]
  19. Litjens T, Brooks DA, Peters C, et al. Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet 1996; 58 : 1127–34. [Google Scholar]
  20. Herskhovitz E, Young E, Rainer J, et al Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI) : long-term follow-up. J Inherit Metab Dis 1999; 22 : 50–62. [Google Scholar]
  21. Harmatz P, Chester B, Whitley CB, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 2004; 144 : 574–80. [Google Scholar]
  22. Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) : results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005; 115 : e681–9. [Google Scholar]
  23. Galsulfase : arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. Drugs RD 2005; 6 : 312–5. [Google Scholar]
  24. Dhami GK, Babwah AV, Sterne-Marr R, Ferguson SS. Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages : implications for Niemann-Pick disease enzyme replacement therapy. J Biol Chem 2004; 279 : 1526–32. [Google Scholar]
  25. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004; 144 : S35–43. [Google Scholar]
  26. Van den Hout H, Reuser AJJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000; 356 : 397–8. [Google Scholar]
  27. Klinge L, Straub U, Neudorf J, 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. Neuromuscul Disord 2005; 15 : 24–31. [Google Scholar]
  28. 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 : e448–57. [Google Scholar]
  29. Raben N, Fukuda T, Gilbert AL, et al. Replacing acid alpha-glucosidase in Pompe disease : recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005; 11 : 48–56. [Google Scholar]
  30. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 2004; 27 : 385–410. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.