| Fabry's disease |
(Fa
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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| Fabry's disease |
Fabry's disease (also known as Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum and Hereditary Dystopic Lipidosis) is a lysosomal storage disease resulting from an X-linked mutation. The mutation causes a deficiency in alpha galactosidase A which is important in lipid catabolism. This leads to the accumulation of ceramide trihexoside in the cardiovascular and renal systems. ...
출처: en.wikipedia.org/wiki/Fabry's_disease
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