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- W2049367078 abstract "Anderson-Fabry disease in an inherited X-linked metabolic disorder involving glycosphingolipid metabolism. Few data are available regarding cochlear involvement. Clinical manifestations of Fabry disease appeared on the first decade of life. The prognosis of males with Fabry disease is serious and life expectancy is limited; clinical evolution of heterozygous females is clearly better. We report a family with Fabry disease in several members. The mother, already dead, had two child which have been examined in our department; the male, without a risk of ototoxicity, or acoustic trauma, has progressive hearing loss, tinnitus and dizinness sometimes; the daughter, without a history of deafness, shows unilateral hearing loss on high-tone frequencies. It is important to emphasize these data to those physicians expert in children with Fabry disease because early enzyme replacement therapy intervention should offer increased possibilities of regression of the disease." @default.
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- W2049367078 date "2006-01-01" @default.
- W2049367078 modified "2023-09-23" @default.
- W2049367078 title "Manifestaciones otológicas en la enfermedad de Fabry-Anderson" @default.
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- W2049367078 doi "https://doi.org/10.1016/s0001-6519(06)78672-1" @default.
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