Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal)  in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...

  Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...

anderson-fabry disease is a rare inherited x-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase a. hereby we report a 39 year old male that presented with proteinuria and edema. histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  fabry disease in associate with iga nephropathy. fabry's disease associated wit...

We propose a matched Fabry-Perot configuration for frequency stabilization where each user locks its laser to a local Fabry-Perot interferometer which is perfectly matched to a master Fabry-Perot. Experimentally, a user Fabry-Perot was matched and locked to a remote master Fabry-Perot.

ESRD is a major cause of morbidity and premature mortality in Fabry disease, particularly in classically affected males. The decline of renal function in Fabry nephropathy is adversely affected by male gender, advanced chronic kidney disease (CKD), and severe proteinuria. The diagnosis of Fabry nephropathy may be missed if not specifically addressed in progressive CKD and patients have been fir...

Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive. Since injured podocytes detach into the urine (podocyturia), we hypothesized that podocyturia would increase in Fabry patients and correlate with clinical severity of F...

BACKGROUND Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease. We systematically assessed sensory system, physical activity, metabolic parameters, and morphology of male and female mice with alpha-galactos...

BACKGROUND Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS This was a retrospective analysis of magnetic resonance imaging (MRI) data from Ta...