Back issues No.4 - 1994 / Case Report  

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Fabry Disease - A Case Report -
Jeng-Hong Lin, Shu-Tai-Liu, Ji-Chen Ho, Ray-Fong Lee, Wei-Jen Chen
Dermatol Sinica 12: 239-248, 1994

Fabry disease (angiokeratoma corporis diffusum universale) is a rare X-linked recessive metabolic disorder due to deficiency of a lysosomal enzyme, α-galactosidase A, subsequent deposition of lipid in the form of intracytoplasmic lamellar inclusion bodies in various tissues and organs, then miscellaneous clinical manifestations. We report a male patient with his pedigree, clinical features and laboratory findings.

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