5 avr. 1882 - Gaucher disease

Description:

First described by Philippe Gaucher (French doctor) in 1882
most common lysosomal storage disease in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver.

Ajouté au bande de temps:

Date: