Usage of "fabry disease"

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Rare human genetic lysosomal storage disorder.

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Uso de fabry disease em inglês

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Translations for fabry disease

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Significados de fabry disease em inglês