Percorrer por autor "Bernardo, Idalecio"
A mostrar 1 - 2 de 2
Resultados por página
Opções de ordenação
- 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.
- Pseudomonas mendocina: the first case of peritonitis on peritoneal dialysisPublication . Jeronimo, Teresa M.; Malho Guedes, A; Stieglmair, Sandra; Guerreiro, Raquel; Laranjo, Ceu; Bernardo, Idalecio; Neves, Pedro Leão