Bibliography
- BEUTLER E: Gaucher disease. Arch. Intern. Med. (1999) 159(8):881–882.
- WEINREB NJ, CHARROW J, ANDERSSON HC et al: Effectiveness of enzyme replacement therapy in 1028 patients with Type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am. I Med. 113(2):112–119.
- VELLODI A, BEMBI B, De VILLEMEUR TB et al: Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease Management of Neuronopathic Gaucher disease: a European consensus. j Inherit. Metab. Dis. 24(3):319–327.
- ERIKSON A, BEMBI B, SCHIFFMANN R: Neuronopathic forms of Gaucher's disease. Ba/1Iiere Gun. Haematol. 10(4):711–723.
- DAMIANO AM, PASTORES GM, WARE JE Jr: The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual. Life Res. 7(5):373–386.
- MASEK BJ, SIMS KB, BOVE CM, KORSON MS, SHORT P, NORMAN DK: Quality of life assessment in adults with Type 1 Gaucher disease. Qual. Ilk Res. 8(3):263–268.
- CLARKE JT, AMATO D, DEBER RB: Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. CMAJ165(5):595–596.
- BEUTLER E, GARBER AM: Alglucerase for Gaucher's disease: dose, costs and benefits. Pharmacoeconomics 5(6):453–459.
- BUTTERS TD, DWEK RA, PLATT FM: Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disoders. Chem. Rev. (2000) 100:4683–4696.
- ABE A, WILD SR, LEE WL, SHAYMAN JA: Agents for the treatment of glycosphingolipid storage disorders. Cum: Drug Metab. (2001) 2(3):331–338.
- PLATT FM, BUTTERS TD: New therapeutic prospects for the glycosphingolipid lysosomal storage diseases. Biochem. Pharmacoi (1998) 56(4):421–430.
- SCHUETTE CG, DOERING T, KOLTER T, SANDHOFF K: The glycosphingolipidoses-from disease to basic principles of metabolism. Biol Chem. (1999) 380(7-8):759–766.
- LACHMANN RH, PLATT FM: Substrate reduction therapy for glycosphingolipid storage disorders. Expert Opin. Investig. Drugs (2001) 10(3):455–466.
- SAWKAR AR, CHENG WC, BEUTLER E, WONG CH, BALCH WE, KELLY JW: Chemical chaperones increase the cellular activity of N3705 beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Li. USA (2002) 99(24):15428–15433.
- VUNNAM RR, RADIN NS: Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain. Chem. Phys. Lipids (1980) 26(3):265–278.
- PLATT FM, NEISES GR, KARLSSON GB, DWEK RA, BUTTERS TD: butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. j Biol. Chem. (1994) 269(43):27108–27114.
- PLATT FM, REINKENSMEIER G, DWEK RA, BUTTERS TD: Extensive glycosphingolipid depletion in the liver and lymphoid organs of mice treated with 1V butyldeoxynojirimycin. j Biol. Chem. (1997) 272(31):19365–19372.
- TYBULEWICZ VL, TREMBLAY ML, LAMARCA ME et al.: Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature (1992) 357(6377):407–410.
- MIZUKAMI H, MI Y, WADA R et al.: Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. I Clin. Invest. (2002) 109(9):1215–1221.
- DWEK RA, PLATT FM: Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc. Nati Acad. Sri. USA (1999) 96(11):6388–6393.
- LIU Y, WADA R, KAWAI H et al: A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. j OM. Invest. (1999) 103(4):497–505.
- ICHIKAWA S, NAKAJO N, SAKIYAMA H, HIRABAYASHI Y: A mouse B16 melanoma mutant deficient in glycolipids. Proc. Natl. Acad. Sri. USA (1994) 91(7):2703–2707.
- YAMASHITA T, WADA R, SASAKI T eta].: A vital role for glycosphingolipid synthesis during development and differentiation. Proc. Natl. Acad. Sri. USA (1999) 96(16):9142–9147.
- ANDERSSON U, BUTTERS TD, DWEK RA, PLATT FM: N butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochem. Pharmacol. (2000) 59(7):821–829.
- FISCHL MA, RESNICK L, COOMBS R et al.: The safety and efficacy of combination N-butyl-deoxynojirimycin (SC-48334) and zidovudine in patients with HIV-1 infection and 200-500 CD4 cells/ mm3. I Acquit: Immune Defic. Syndr. (1994) 7(2):139–147.
- COX T, 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(9214):1481–1485.
- AERTS JM, VAN WEELY S, BOOT R, HOLLAK CE, TAGER JM: Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. I Inherit. Metab. Dis. (1993) 16(2):288–291.
- HEITNER R, ELSTEIN D, AERTS J, WEELY S, ZIMRAN A: Low-Dose N Butyldeoxynojirimycin (OGT 918) for Type I Gaucher Disease. Blood Cells Mol Dis. (2002) 28(2):127–133.
- ZIMRAN A: Data presented at the 5th Workshop of the European Working Croup on Gaucher Disease (EWGGD), Prague, Czech Republic (2002).
- VAN DER SPOEL AC, JEYAKUMAR M, BUTTERS TD et al.: Reversible infertility in male mice after oral administration of alkylated imino sugars: A nonhormonal approach to male contraception. Proc. Natl. Acad. Li. USA (2002).
- SANDHOFF K, KOLTER T: Biochemistry of glycosphingolipid degradation. Clin. Chim. Acta (1997) 266(1):51–61.
- SILLENCE DJ, PURI V, MARKS DL et al: Glucosylceramide modulates membrane traffic along the endocytic pathway. I Lipid Res. (2002) 43(10:1837–1845.
- PAGANO RE, WATANABE R, WHEATLEY C, DOMINGUEZ M: Applications of BODIPY-sphingolipid analogs to study lipid traffic and metabolism in cells. Methods Enzymol (2000) 312:523–534.
- CORSSMIT EP, HOLLAK CE, ENDERT E, VAN OERS MH, SAUERWEIN HE ROMIJN JA: Increased basal glucose production in Type 1 Gaucher's disease. Endocrinol Metab. (1995) 80(9):2653–2657.
- RINGDEN 0, GROTH CG, ERIKSON A, GRANQVIST S, MANSSON JE, SPARRELID E: Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation (1995) 59(6)864–870.
- ROSENBERG M, KINGMA W, FITZPATRICK MA, RICHARDS SM: Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood (1999) 93(6):2081–2088.
- ELSTEIN D, HOLLAK C, AERTS J et al: 36-month efficacy and safety of OGT 918 in adult patients with ERT-naive Type 1 Gaucher Disease. American Soden, of Hematologists (2002) (Abstract).
- ORVISKY E, PARK JK, LaMARCA ME et al: Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet. Metab. (2002) 76(4):262–270.
- GRINZAID KA, GELLER E, HANNA SL, ELSAS LJ: Cessation of enzyme replacement therapy in Gaucher disease. Genet. Med. (2002) 4(6):427–433.
- PLATT FM, NEISES GR, REINKENSMEIER G et al: Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science (1997) 276(5310:428–431.
- CONZELMANN E, SANDHOFF K: Biochemical basis of late-onset neurolipidoses. Dev. Neurosci. (1991) 13(4-5):197–204.
- MYEROWITZ R, LAWSON D, MIZUKAMI H, MI Y, TIFFT CJ, PROIA RL: Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum. Mol Genet. (2002) 11(10:1343–1350.
- DRUGAN C, JEBELEANU G, GRIGORESCU-SIDO P, CAILLAUD C, CRACIUN AM: Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with Type 1 Gaucher disease. Blood Cells Mol Dis. (2002) 28(1):13–20.
- FIORE CE, BARONE R, PENNISI P, PAVONE V, RICCOBENE S: Bone ultrasonometry, bone density, and turnover markers in Type 1 Gaucher disease. I Bone Miner Metab. (2002) 20(1):34–38.
Websites
- http://www.emea.eu.int Zavesca7 (miglustat); Summary of Product Characteristics on the European Agency for the Evaluation of Medicinal Products homepage.