Enzyme Replacement Therapy Glycogen Storage Disease Fanconi Syndrome Glycogen Storage Disease Type Alpha Glucosidase 


  1. Gahl W, Thoene J, and Schneider J (2001) Cystinosis: a disorder of lysosomal membrane transport. In: The meatbolic and moledcular bases of inherited diseases. (Scriver C, Beaudet A, Valle D, and Sly WS, eds). New York: McGraw-Hill, pp 5085Google Scholar
  2. McDowell G, Town M, van’t Hoff W, and Gahl W (2000) Clinical and molecular aspects of nephropatic cystinosis. Pediatr Res 47: 17PubMedGoogle Scholar
  3. Spears G, Slusser R, Tousimis A, Taylor C, and Schulman J (1971) Cystinosis: an ultrastructural and electron-probe study of the kidney with unusual findings. Arch Pathol Lab Med 9: 206Google Scholar
  4. Touchman J, Anikster Y, Dietrich N, Maduro V, McDowell G, Shotelersuk V, and Bouffard G (2000) The genomic region encompassing the nephropathic cystinosis gene (CNTS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res 10: 165CrossRefPubMedGoogle Scholar
  5. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore S, and Callen D (1998) A novel gene encoding an integral membrane protein which is mutated in nephropathic cystinosis. Nat Genet 18: 319CrossRefPubMedGoogle Scholar

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