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J R Soc Med. 1994 November; 87(11): 707.
PMCID: PMC1294944

Angiokeratoma corporis diffusum in fucosidosis.

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Selected References

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  • Patel V, Watanabe I, Zeman W. Deficiency of alpha-L-fucosidase. Science. 1972 Apr 28;176(4033):426–427. [PubMed]
  • Williamson M, Cragg H, Grant J, Kretz K, O'Brien J, Willems PJ, Young E, Winchester B. A 5' splice site mutation in fucosidosis. J Med Genet. 1993 Mar;30(3):218–223. [PMC free article] [PubMed]
  • 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. 1991 Jan;38(1):111–131. [PubMed]
  • Primrose DA. A note on fucosidosis in a mentally subnormal female. J Ment Defic Res. 1975 Sep-Dec;19(3-4):267–267. [PubMed]
  • Beratis NG, Varvarigou-Frimas A, Beratis S, Sklower SL. Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. Clin Genet. 1989 Jul;36(1):59–64. [PubMed]
  • Lowden JA, O'Brien JS. Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet. 1979 Jan;31(1):1–18. [PubMed]
  • Kanzaki T, Yokota M, Mizuno N, Matsumoto Y, Hirabayashi Y. Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. Lancet. 1989 Apr 22;1(8643):875–877. [PubMed]
  • McCallum DI, Macadam RF, Johnston AW. Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis. J Med Genet. 1980 Feb;17(1):21–26. [PMC free article] [PubMed]
  • Holmes RC, Fensom AH, McKee P, Cairns RJ, Black MM. Angiokeratoma corporis diffusum in a patient with normal enzyme activities. J Am Acad Dermatol. 1984 Feb;10(2 Pt 2):384–387. [PubMed]

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