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- W2014996971 abstract "Fabry disease (FD) is an x-linked inherited disease that causes a lack of a lysosomal enzyme, alpha-galactosidaseA, leading to cellular accumulation of glycosphingolipids of the whole body. This accumulation in the inner ear causes hearing loss also. However, FD is rare, and the frequency is lower in females than in males. Thus, there have been few comparative studies between women and men for hearing loss in FD. Accordingly, we examined the hearing status of both male and female FD patients and elucidated the similarities and differences. We also analyzed for correlations between the hearing status and renal and heart disorders.12 women and 15 men were studied by means of pure tone audiometry, the relationships between the hearing status and the renal and cardiac functions.The audiogram type was the flat type in a majority of both women and men, followed by the high type and low type, while the U-shaped type was rare. Examination of the thresholds average showed abnormality in one woman and four men. Comparison to threshold for each age bracket of normal subjects showed abnormality in three women and nine men. No correlations were found between the hearing loss and either the renal or cardiac function. All the patients with renal dysfunction had abnormal hearing.The frequency of hearing loss in FD was higher in men than in women. Also, there may be some relationship between renal function and hearing loss in FD." @default.
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- W2014996971 date "2009-12-01" @default.
- W2014996971 modified "2023-09-25" @default.
- W2014996971 title "The hearing status in 12 female and 15 male Japanese Fabry patients" @default.
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- W2014996971 doi "https://doi.org/10.1016/j.anl.2009.01.001" @default.
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