Browsing by Author "Neves, Pedro Leao"
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- Gaucher disease and Lupus: a rare association?Publication . Jerónimo, Teresa; Cabrita, Ana; Pimentel, Ana; Vidinha, Joana; Fragoso, Andre; Santos, Viriato; Bernardo, Idalecio; Viana, Helena; Carvalho, Fernanda; Brito, Helena; Lazaro, Mario; Neves, Pedro LeaoGaucher 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.