Free Access
Med Sci (Paris)
Volume 19, Number 11, Novembre 2003
Page(s) 1056 - 1058
Section Le Magazine : Nouvelles
Published online 15 November 2003
  1. Hopwood JJ, Ballabio A.Multiple sulfatasedeficiency and the natureof the sulfatase family. In:Scriver CR, Beaudet AL,Valle D, Sly WS, eds. The metabolic and molecularbases of inherited disease.New York: McGraw-Hill,2001: 3725–32. [Google Scholar]
  2. Austin J, Armstrong D,Shearer L. Metachromatic form of diffuse cerebralsclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain,liver and kidney in four patients with metachromatic leukodystrophy (MLD). Arch Neurol 1965; 13: 593–614. [Google Scholar]
  3. Austin JH. Studies in metachromatic leukodystrophy. XII.Multiple sulfatase deficiency. Arch Neurol 1973; 28: 258–64. [Google Scholar]
  4. Ballabio A, Parenti G, Di Natale P, Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichtyosis and multiple sulphatase deficiency. Hum Genet 1985; 70: 315–7. [Google Scholar]
  5. Rommerskirch W, von Figura K. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. Proc Natl Acad Sci USA 1992; 89: 2561–5. [Google Scholar]
  6. Dierks T, Schmidt B,Borissenko LV, et al.Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Caformylglycine generating enzyme. Cell 2003;113: 435–44. [Google Scholar]
  7. Cosma MP, Pepe S,Annunziata I, et al. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 2003;113: 445–56. [Google Scholar]
  8. Schmidt B, Selmer T,Ingendoh A, von Figura K.A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 1995;82: 271–8. [Google Scholar]
  9. De Lonlay P. Comment localiser un gène morbide sans étude de liaison génétique ? Med Sci 2003;19: 527–8. [Google Scholar]

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