عزیزآهاری, سحر

[ 1 ] - بیماری آندرسون ـ فابری: گزارش یک مورد

Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...