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Punctate dark blue macules around the umbilicus
    Differential Diagnosis[Top] [Nav]
Fabry Disease (alpha-galactosidase A deficiency)
    Discussion -- not available online[Top] [Nav]
    Update Comments[Top] [Nav]
  • Angiokeratoma of penis and scrotum in man with beta-mannosidase deficiency. [101]
  • An old clinical conference. [102]
    Footnotes in Print Edition[Top] [Nav]
    (1a) The Metabolic Basis of Inherited Disease. 5th ed.
  Stanbury JB, et al. New York: McGraw-Hill, 1983: 906-944.
    (1b) Dermatology in General Medicine. 3rd ed.
  Fitzpatrick TB, etal. NY: McGraw-Hill, 1987: 1739-1760.
    (2) [This footnote was a comment, not a reference.]
    (M) McKusick 301500 = Fabry disease.
    New References[Top] [Nav]
    101.Human beta-mannosidase deficiency [letter].
  Cooper A, Sardharwalla IB, et al.   N Engl J Med 1986 Nov 6;315(19):1231.  Pubmed  Similars
    102.Anderson--Fabry disease [clinical conference].
  Pyeritz RE, Bender WL, et al.   Johns Hopkins Med J 1982 May;150(5):181-7.  Pubmed  Similars
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    ©1986-2000 John Sotos, MD. All rights reserved.  Last updated 16:35 PDT on July 4, 2000.[Top]

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