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Johannes, German dermatologist, 1860-1930. See: Fabry disease.
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Fabry disease is an inherited metabolic disease caused by mutations in the GLA gene, which result in a deficiency of the enzyme alpha-galactosidase A (?-Gal A).
Involvement of the central nervous system (CNS) in Fabry disease patients is mainly due to cerebral vasculopathy affecting both small and large cerebral vessels.
High incidence of later-onset fabry disease revealed by newborn screening.
Fabry nephropathy is characterized by variable levels of disease severity, with an overall rate of progression of Chronic Kidney Disease (CKD) very similar to diabetic nephropathy, with evidences suggesting that untreated patients usually develop End Stage Renal Disease (ESRD) into their 50s [30-32].
Testing for Fabry disease was performed: alpha-galactosidase level was normal (1.7 [micro]mol/L/h; normal range >1.2 [micro]mol/L/h), lyso-GL-3 was increased (7.5 ng/mL; normal range 0.0-3.5 ng/mL), and a heterozygous mutation was detected (c.[902G>T]) (Figures 4(a) and 4(b)).
The morphological changes of vortex keratopathy in Fabry disease and amiodarone-induced keratopathy have been examined by IVCM [8, 15-19].
Macaux Perelman, an architect, and Alexis Fabry, a publisher, were hired three years ago to helm Hermes Maison's artistic studio, to much curiosity owing to their rather unlikely professional backgrounds.
Fabry disease is a panethnic lipidosis first described in 1898 by Johannes Fabry and William Anderson.
Fabry disease is a genetic lysosomal storage disease which affects several organs.
Fabry disease is an X-linked storage disease due to mutations in the GLA gene encoding the lysosomal enzyme [alpha]-galactosidase A, leading to the accumulation of enzyme substrates, namely, globotriaosylceramide (Gb3), lyso-globotriaosylceramide (lyso-Gb3), and galabiosylceramide [1].
Fabry disease (FD) is caused by the lysosomal accumulation of complex glycosphingolipids, mainly globotriaosylceramide (Gb3) and its metabolites [1].
Fabry disease (FD, OMIM 301500), an X-linked metabolic disorder, is caused by a deficiency of the lysosomal enzyme [alpha]-galactosidase A, resulting in the accumulation of glycosphingolipids (in particular globotriaosylceramide (GB3)) in endothelial cells and other tissues [1, 2].

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