[Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection].
作者信息
Bovey E H, Saurer F
机构信息
Hôpital ophtalmique Jules Gonin, Lausanne.
出版信息
Klin Monbl Augenheilkd. 1991 May;198(5):354-7. doi: 10.1055/s-2008-1045979.
PMID:1886355
Abstract
A 45-year-old man with Fabry's disease is presented. 27 relatives are examined. Among the different examinations (serum activity of alpha-galactosidase, urinary excretion of trihexosyl ceramide, renal function, ocular examination) ocular examination remains the easiest and cheapest test for detection of heterozygotes. The ocular manifestations of this enzymatic defect are reviewed.
摘要
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