《英文msh词典》Disease,Fabry
[入口词] Disease,Fabry
[主题词] Fabry Disease
[英文释义] Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions,renal failure,and disturbances of the cardiovascular,gastrointestinal,and central nervous systems.