Current Treatments

Lysosomal Storage Disorders: A Practical Guide

Volumn , Issue , 2012, Pages 151-165

  Cox, Timothy M ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Cystinosis; Enzyme replacement therapy (ERT); Fabry disease; Gaucher disease; Haematopoietic stem cell transplantation (HSCT)

Indexed keywords

EID: 84886502345     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781118514672.ch20     Document Type: Chapter

References (29)

1. Hoogerbrugge P, Brouwer O, Bordigoni P, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 1995;345:1398-1403.
2. Staba S, Escolar M, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004;350:1960-1969.
3. Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol 2010;33:589-604.
4. Wraith JE. Limitations of enzyme replacement therapy: current and future. J Inherit Metab Dis 2006;29:442-447.
5. Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): longterm follow-up. J Inherit Metab Dis 1999;22:50-62.
6. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007;120:405-418.
7. Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 1999;12:167-176.
8. Broomfield AA, Chakrapani A, Wraith JE. The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option? J Inherit Metab Dis 2010 Feb 18. (E-pub in advance)
9. Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe ' s disease. N Engl J Med 2005;352:2069-2081.
10. Van Patten SM, Hughes H, Huff MR, et al. Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease. Glycobiology 2007;17:467-478.
11. Mistry PK, Wraight EP, Cox TM. Delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Lancet 1996;348:1555-1559.
12. Rohrbach M, Klein A, Köhli-Wiesner A, et al. CRIMnegative infantile Pompe disease: 42-month treatment outcome. J Inherit Metab Dis 2010;33:751-757.
13. van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362:1396-1406.
14. Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med 2006;57:283-296.
15. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-346.
16. Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet 2002;3:954-966.
17. Grewal S, Wynn R, Abdenur JE, et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005;7:143-146.
18. Güngör D, de Vries JM, Hop WC, et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 2011;6:34.
19. Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006;148:533-539.
20. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99-109.
21. Madra M, Sturley SL. Niemann-Pick type C pathogenesis and treatment: from statins to sugars. Clin Lipidol 2010;5:387-395.
22. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-254.
23. Nesterova G, Gahl WA. Cystinosis. In: Pagon RA, et al. (eds.), GeneReviews [Internet]. Seattle (WA) : University of Washington, Seattle; 1993-2001 Mar 22 [updated 2011 Aug 11].
24. Neufeld EF. From serendipity to therapy. Annu Rev Biochem 2011;80:1-15.
25. Saftig, P. Lysosomes. Springer-Verlag, New York Inc., 2005;195 pp.
26. Schiffmann R, Ries M, Askari H, et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 2006;448:337-343.
27. Sly WS. Enzyme replacement therapy for lysosomal storage disorders: successful transition from concept to clinical practice. Mol Med 2004;101:100-104.
28. von Figura K, Hasilik A. Lysosomal enzymes and their receptors. Annu Rev Biochem 1986;55:167-193.
29. Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for Mucopolysaccharidosis I: a randomized, doubleblinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004;144:581-588.