Jerónimo, TeresaCabrita, AnaPimentel, AnaVidinha, JoanaFragoso, AndreSantos, ViriatoBernardo, IdalecioViana, HelenaCarvalho, FernandaBrito, HelenaLazaro, MarioNeves, Pedro Leao2017-04-072017-04-072016-120211-6995http://hdl.handle.net/10400.1/9218Gaucher disease (GD), is an autosomal recessive lysosomal storage disease that is due to mutations in the glucocerebrosidase (GC) gene, with a prevalence of 1/57,000 to 1/75,000 births worldwide and significantly more common among the Ashkenazi Jewish heritage. GD is categorized into three clinical types4 and the clinical manifestations result from the accumulation of the lipid-laden macrophages in the spleen, liver, bone, bone marrow, leading to impairment of central nervous system in the most severe cases.engGaucher disease and Lupus: a rare association?journal article10.1016/j.nefro.2016.05.014