Options in the treatment of Fabry disease [5]

Pediatric Dermatology

Volumn 20, Issue 4, 2003, Pages 373-374

  Möhrenschlager, Matthias ^a   Ring, Johannes ^a   Abeck, Dietrich ^a  

^a NONE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

1 ETHYLENEDIOXYPHENYL 2 PALMITOYLAMINOPROPANOL; ALPHA GALACTOSIDASE; CERAMIDE GLUCOSYLTRANSFERASE; CERAMIDE GLUCOSYLTRANSFERASE INHIBITOR; GLOBOTRIAOSYLCERAMIDE; GLYCOSPHINGOLIPID; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

ANHIDROSIS; CLINICAL TRIAL; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; GENE THERAPY; HUMAN; LETTER; LIPID STORAGE; NEUROPATHIC PAIN; NONHUMAN; PRIORITY JOURNAL;

FABRY DISEASE; HUMANS;

EID: 0042206476     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1525-1470.2003.20326_5.x     Document Type: Letter

References (11)

1. Chang A, Kahn T. Fabry disease in a heterozygous female. Pediatr Dermatol 2002;19:85-87.
2. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-2749.
3. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human a-galactosidase A replacement therapy of Fabry's disease. N Engl J Med 2001;345:9-16.
4. Frustaci A, Chimenti C, Ricci NR, et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 2001;345:25-32.
5. Möhrenschlager M, Ring J, Abeck D. Skin manifestations of Fabry disease. JAMA 2001;286:1315.
6. Lao LM, Kumakiri M, Mima H, et al. The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol Sci 1998;18:109-117.
7. Radin NS. Inhibitors and stimulators of glucocerebroside metabolism. Prog Clin Biol Res 1982;95:357-383.
8. Abe A, Gregory S, Lee L, et al. Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. J Clin Invest 2000;105:1563-1571.
9. Abe A, Arend LJ, Lee L, et al. Glycosphingolipid depletion in Fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase. Kidney Int 2000;57:446-457.
10. Siatskas C, Medin JA. Gene therapy for Fabry disease. J Inherit Metab Dis 2001;24(suppl 2):25-41.
11. Qin G, Takenaka T, Telsch K, et al. Preselective gene therapy for Fabry disease. Proc Natl Acad Sci USA 2001;98:3428-3433.