Results for:
"
Fabry%27s_disease
" in Documents
- Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabr...
- Fabry disease is a progressive, life-threatening lysosomal storage disorder which is characterized by deficient activity of the lysosomal enzyme alpha-galactosidase A. Studies have demonstrated that b...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2008-5-6
- Natural history of Fabry disease in females in the Fabry Outcome Surve...
- BACKGROUND: Fabry disease is a rare X linked lysosomal storage disorder resulting from deficiency of alpha-galactosidase A activity. Although the severity of clinical features in male patients is well...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 2005-10-18
- Characterization of Fabry disease in 352 pediatric patients in the Fab...
- Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 F...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2008-7-4
- Ear symptoms in children with Fabry disease: data from the Fabry Outco...
- BACKGROUND: Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tin...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2009-10-31
- Hearing loss in Fabry disease: data from the Fabry Outcome Survey.
- Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological descript...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 2006-8-22
- Fabry disease and the skin: data from FOS, the Fabry outcome survey.
- BACKGROUND: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tis...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 2007-6-19
- Ocular manifestations of Fabry's disease: data from the Fabry Outcome ...
- BACKGROUND: Fabry's disease is an X-linked lysosomal storage disorder characterised by deficient activity of the enzyme alpha-galactosidase A. AIM: To study eye abnormalities in patients with Fabry's ...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 2006-9-16
- Agalsidase alpha and hearing in Fabry disease: data from the Fabry Out...
- Fabry disease is an X-linked lysosomal storage disorder characterized by multi-organ dysfunction, including hearing loss - mainly sensorineural. The recent introduction of enzyme replacement therapy (...
-
Rating:
Views: (1)
Pages: ()
Uploaded: 2006-8-22