Autor(es): Jerónimo, Teresa ; Cabrita, Ana ; Pimentel, Ana ; Vidinha, Joana ; Fragoso, Andre ; Santos, Viriato ; Bernardo, Idalecio ; Viana, Helena ; Carvalho, Fernanda ; Brito, Helena ; Lazaro, Mario ; Neves, Pedro Leao
Data: 2016
Identificador Persistente: http://hdl.handle.net/10400.1/9218
Origem: Sapientia - Universidade do Algarve
Gaucher 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.
