5 apr 1882 anni - Gaucher disease

Descrizione:

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.

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