Add to ORKGFabry’s disease is a recessive X -linked disorder that results from a deficiency of the hydrolase alpha- -galactosidase A (α -Gal A). The absence of α -Gal A enzyme activity leads to accumulation of glycosphingolipid globotryaosylceramide (GL -3) in the lysosomes of a variety of cell types. It can cause skin and ocular lesions, progressive renal, cardiac or cerebrovascular disorders. The authors report the case of a 39 -year -old female who was referred to a nephrology appointment by her ophthalmologist, after the diagnosis of cornea verticillata and posterior subcapsular cataract. This case illustrates the importance of a multidisciplinary evaluation to an effective clinical screening. In males, most symptoms begin in childhood; in f...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactos...
Fabry’s disease is a recessive X -linked disorder that results from a deficiency of the hydrolase al...
Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-g...
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lys...
Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which ...
Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is ...
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolyti...
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galact...
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in...
Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosoma...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactos...
Fabry’s disease is a recessive X -linked disorder that results from a deficiency of the hydrolase al...
Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-g...
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lys...
Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which ...
Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is ...
Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolyti...
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galact...
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in...
Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosoma...
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enz...
Fabry disease is an X-linked inherited condition due to the absence or reduction of alpha-galactos...