Accès gratuit
Numéro |
Med Sci (Paris)
Volume 21, Décembre 2005
Métabolisme glucidolipidique et risque cardiovasculaire: Nouvelle approches
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Page(s) | 77 - 83 | |
Section | M/S revues | |
DOI | https://doi.org/10.1051/medsci/20052111s77 | |
Publié en ligne | 15 novembre 2005 |
- Hers HG. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease). Biochem J 1963; 86 : 11–6. [Google Scholar]
- 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]
- Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science 1970; 169 : 141–6. [Google Scholar]
- Mistry PK. Gaucher’s disease : a model for modern management of a genetic disease. J Hepatol 1999; 30 (suppl 1) : 1–5. [Google Scholar]
- Germain DP. Gaucher’s disease : a paradigm for interventional genetics. Clin Genet 2004; 65: 77–86 [Google Scholar]
- 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]
- 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]
- 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]
- Pastores G, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41 : 4–14. [Google Scholar]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- Kakkis E, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344 : 182–8. [Google Scholar]
- Wraith JE, Hopwood J, Fuller M, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 2005; 19 : 1–7. [Google Scholar]
- 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]
- 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]
- 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]
- 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]
- Galsulfase : arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. Drugs RD 2005; 6 : 312–5. [Google Scholar]
- 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]
- Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004; 144 : S35–43. [Google Scholar]
- 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]
- 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]
- 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]
- 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]
- Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 2004; 27 : 385–410. [Google Scholar]
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