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  • Title: Severe orthostatic hypotension in a female carrier of Fabry's disease.
    Author: Mutoh T, Senda Y, Sugimura K, Koike Y, Matsuoka Y, Sobue I, Takahashi A, Naoi M.
    Journal: Arch Neurol; 1988 Apr; 45(4):468-72. PubMed ID: 3128256.
    Abstract:
    A 21-year-old woman in a family with a history of Fabry's disease showed orthostatic hypotension and whorl-like corneal opacity typical for Fabry's disease. Biochemical studies revealed that she was a heterozygote of the Fabry gene. A variety of autonomic function tests demonstrated both sympathetic and parasympathetic dysfunction. To our knowledge, the present case is the first report of a heterozygous female carrier of Fabry's disease presenting dysfunction of the autonomic nervous system.
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