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Gaucher disease and Lupus: a rare association?

Jerónimo, Teresa; Cabrita, Ana; Pimentel, Ana; Vidinha, Joana; Fragoso, Andre; Santos, Viriato; Bernardo, Idalecio; Viana, Helena; Carvalho, Fernanda

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, ...


What is the role of apelin regarding cardiovascular risk and progression of ren...

Silva, Ana Paula; Fragoso, Andre; Silva, Claudia; Viegas, Carla; Tavares, Nelson; Guilherme, Patricia; Santos, Nelio; Rato, Fatima; Camacho, Ana

Aims. To evaluate the association of different apelin levels with cardiovascular mortality, hospitalization, renal function, and cardiovascular risk factors in type 2 diabetic patients with mild to moderate CKD. Methods. An observational, prospective study involving 150 patients divided into groups according to baseline apelin levels: 1 <= 98pg/mL, 2 = 98-328 pg/mL, and 3 >= 329 pg/mL. Baseline characteristics ...


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