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Disease relevance of Fucosidosis


High impact information on Fucosidosis


Chemical compound and disease context of Fucosidosis


Anatomical context of Fucosidosis

  • TEM of these cells showed a characteristic pattern of vacuoles in the cytoplasm as described in other tissues from patients with fucosidosis [15].

Gene context of Fucosidosis

  • A novel FUCA1 mutation causing fucosidosis in a Chinese boy [16].
  • Fucosidosis with dystonia [5].
  • Fucosidosis is caused by a deficiency of the lysosomal enzyme alpha-L-fucosidase (ALF) leading to an accumulation of glycoproteins in a variety of cells [15].
  • Fucosidosis is an autosomal recessive inborn error of metabolism in which fucose-containing glycolipids, glycoproteins, and oligo- and polysaccharides accumulate in tissues as a consequence of alpha-L-fucosidase deficiency [17].
  • We have employed the polymerase chain reaction technique to amplify alpha-L-fucosidase DNA from the five patients known to carry the EcoRI abnormality as well as four patients and two additional fucosidosis patients who do not carry the EcoRI abnormality [18].

Analytical, diagnostic and therapeutic context of Fucosidosis


  1. Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases. Estruch, E.J., Hart, S.L., Kinnon, C., Winchester, B.G. The journal of gene medicine. (2001) [Pubmed]
  2. 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. Krivit, W., Peters, C., Shapiro, E.G. Curr. Opin. Neurol. (1999) [Pubmed]
  3. Identification of glycoprotein storage diseases by lectins: a new diagnostic method. Alroy, J., Orgad, U., Ucci, A.A., Pereira, M.E. J. Histochem. Cytochem. (1984) [Pubmed]
  4. Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides. Ramsay, S.L., Meikle, P.J., Hopwood, J.J., Clements, P.R. Anal. Biochem. (2005) [Pubmed]
  5. Fucosidosis with dystonia. Gordon, B.A., Gordon, K.E., Seo, H.C., Yang, M., DiCioccio, R.A., O'Brien, J.S. Neuropediatrics. (1995) [Pubmed]
  6. Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis. Darby, J.K., Willems, P.J., Nakashima, P., Johnsen, J., Ferrell, R.E., Wijsman, E.M., Gerhard, D.S., Dracopoli, N.C., Housman, D., Henke, J. Am. J. Hum. Genet. (1988) [Pubmed]
  7. Urinary glycopeptides of fucosidosis. Yamashita, K., Tachibana, Y., Takada, S., Matsuda, I., Arashima, S., Kobata, A. J. Biol. Chem. (1979) [Pubmed]
  8. alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients. Beratis, N.G., Turner, B.M., Labadie, G., Hirschhorn, K. Pediatr. Res. (1977) [Pubmed]
  9. Metabolic correction of fucosidosis lymphoid cells by galaptin-alpha-L-fucosidase conjugates. Allen, H.J., Ahmed, H., DiCioccio, R.A. Biochem. Biophys. Res. Commun. (1990) [Pubmed]
  10. Urinary excretion of a novel hexasaccharide and glycopeptide analogue in fucosidosis. Ng Ying Kin, N.M., Wolfe, L.S. Biochem. Biophys. Res. Commun. (1979) [Pubmed]
  11. Urinary abnormalities in fucosidosis. Characterization of a disaccharide and two glycoasparagines. Lundblad, A., Lundsten, J., Nordén, N.E., Sjöblad, S., Svensson, S., Ockerman, P.A., Gehlhoff, M. Eur. J. Biochem. (1978) [Pubmed]
  12. Human and canine fucosidosis: a comparative lectin histochemistry study. Alroy, J., Ucci, A.A., Warren, C.D. Acta Neuropathol. (1985) [Pubmed]
  13. Characterization of SSEA-1 glycolipids from the brain of a patient with fucosidosis. Schwarting, G.A., Williams, M.A., Evans, J.E., McCluer, R.H. Glycoconj. J. (1989) [Pubmed]
  14. Digestion of asparagine-linked oligosaccharides by endo-beta-N-acetylglucosaminidase in the human skin fibroblasts obtained from fucosidosis patients. Tachibana, Y., Yamashita, K., Kawaguchi, M., Arashima, S., Kobata, A. J. Biochem. (1981) [Pubmed]
  15. Recurrent respiratory infections in a child with fucosidosis: is the mucus too thin for effective transport? Rubin, B.K., MacLeod, P.M., Sturgess, J., King, M. Pediatr. Pulmonol. (1991) [Pubmed]
  16. A novel FUCA1 mutation causing fucosidosis in a Chinese boy. Ip, P., Goh, W., Chan, K.W., Cheung, P.T. J. Inherit. Metab. Dis. (2002) [Pubmed]
  17. Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy. Breier, F., Hobisch, G., Fang-Kircher, S., Braun, F., Paschke, E., Jurecka, W. The American Journal of dermatopathology. (1995) [Pubmed]
  18. Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. Kretz, K.A., Darby, J.K., Willems, P.J., O'Brien, J.S. J. Mol. Neurosci. (1989) [Pubmed]
  19. Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. Willems, P.J., Darby, J.K., DiCioccio, R.A., Nakashima, P., Eng, C., Kretz, K.A., Cavalli-Sforza, L.L., Shooter, E.M., O'Brien, J.S. Am. J. Hum. Genet. (1988) [Pubmed]
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