Imbriaco et al., "The kidney in Fabry's disease
," Clinical Genetics, vol.
The heart in Fabry's disease
. Cardiovasc Pathol 2011; 20(1): 8-14.
is one of the genetic disorders grouped together as lysosomal storage disease.
. Indian J Dermatol Venereol Leprol.
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease
: an analysis of registry data.
P and her mother were diagnosed with Fabry's disease
(FD) based on genetic analysis.
The team was also able to successfully treat a mouse suffering from Fabry's disease
, a genetic kidney defect characterized by the deficiency of a metabolism-aiding enzyme, by using the method to replace its nephrons with healthy ones, he said.
Judith Pringle's husband Stephen died in April 2002 of Fabry's disease
, which leads to kidney and heart failure.
is caused by an insufficiency of the lysosomal enzyme [alpha]-galactosidase A.
They include treatments for conditions which until now suffered from insufficient therapy options, such as Fabry's disease
, specific forms of leukaemia, rare gastro-intestinal tumours, and extreme cases of hypertension.The European Medicines Agency in London, which operates the scheme, is pleased at the level of success.
The rare, fatal genetic condition in this instance is Fabry's disease
. In people with the illness, lack of the enzyme alpha-galactosidase A results in an abnormal buildup of certain lipids in blood vessel cells.
Physiological characterization of neuropathy in Fabry's disease
. Muscle Nerve 2002; 26:622-629.