Tinnitus may be an earlier symptom than previously thought in Fabry disease.

This paper examines hearing loss in a group of young patients with Fabry disease.

Objective: To assess the prevalence of Fabry disease in young patients with cryptogenic stroke.

Aim: The prevalence of hearing loss in patients with Fabry disease is still uncertain.

Despite enzyme replacement therapy, Fabry disease progresses with serious myocardial, cerebral and renal manifestations.

Moreover, Fabry disease could not be ruled out as the clinical diagnosis of ESKD.

The most appropriate time for screening for Fabry disease (FD) is school age.

Eight biochemically proven Fabry disease patients (from four families) were included.

Objective: Fabry disease is a rare X-linked inherited lysosomal storage disorder affecting multiple organ systems.

PRX-102 or alpha-GAL-A is an enzyme replacement therapy product for the treatment of Fabry disease.

The pathological study of the cardiac biopsy sample showed no characteristic findings of Fabry disease.

Patients with Fabry disease lack a specific enzyme and the condition is fatal without lifelong treatment.

Fabry disease was confirmed by family history and a positive enzyme test, and ERT was commenced.

This study was designed to determine the prevalence rate of Fabry disease in Japanese dialysis patients.

We screened for Fabry disease by measurement of alpha-galactosidase A and beta-glucuronidase activity on blood spot.

To investigate the effects of purified alpha-gal A, 10 patients with Fabry disease received a single i.v.