High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64) ...

Paramedical Workers: The meticulous observations of paramedical staff have made important contributions, for example, Sister Mary Joseph's nodules Patients: Patients have been immortalized by ...

Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...