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Tang, P. Fucosidosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/5939 (accessed on 21 September 2026).
Tang P. Fucosidosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/5939. Accessed September 21, 2026.
Tang, Peter. "Fucosidosis" Encyclopedia, https://encyclopedia.pub/entry/5939 (accessed September 21, 2026).
Tang, P. (2020, December 31). Fucosidosis. In Encyclopedia. https://encyclopedia.pub/entry/5939
Tang, Peter. "Fucosidosis." Encyclopedia. Web. 31 December, 2020.
Fucosidosis
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/fucosidosis

Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum.

Fucosidosis neurodegenerative disorder FUCA1 gene

References

  1. Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF. Phenotypic spectrum offucosidosis in Tunisia. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S313-6. doi:10.1007/s10545-008-0891-0.
  2. Bharati A, Higgins C, Ellis I, Wraith J. Fucosidosis: a therapeutic challenge.Pediatr Dermatol. 2007 Jul-Aug;24(4):442-3.
  3. Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, PaschkeE, Winchester B. Fucosidosis: genetic and biochemical analysis of eight cases. J Med Genet. 1997 Feb;34(2):105-10.
  4. Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A. MR brain imaging offucosidosis type I. AJNR Am J Neuroradiol. 2001 Apr;22(4):777-80.
  5. Kanitakis J, Allombert C, Doebelin B, Deroo-Berger MC, Grande S, Blanc S,Claudy A. Fucosidosis with angiokeratoma. Immunohistochemical &electronmicroscopic study of a new case and literature review. J Cutan Pathol.2005 Aug;32(7):506-11.
  6. Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS.Fucosidosis revisited: a review of 77 patients. Am J Med Genet. 1991Jan;38(1):111-31. Review.
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Subjects: Others
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View Times: 872
Entry Collection: MedlinePlus
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Update Date: 03 Jun 2021
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