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Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-g...
Diaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.G.; Frisch, A.; Cohen, I.J.; Miranda, C.S.; Amaral, O.; Maire, I.; Poenaru, L.; Caillaud, C.; Weizberg, M.Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA). Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent. Of the causative GBA mutations, N370S is particularly frequent in the AJ population, (q approximately .03), whereas the 84GG insertion (q approximately .003) occurs exclu...
Chronic hemodialysis: risk factors for intra-dialytic hypotension (IDH).
Neves, P L; Serviço de Nefrologia, Hospital Distrital de Faro.; Camacho, A; Bernardo, I; Jesus, I; Sabino, H; Cohen, I; Amorim, J PHaemodialysis is the most used among the different renal function replacement methods. Although the survival is acceptable the mobility is important; intradialytic hypotension is a main cause of such mobility. In this study which included stable chronic haemodialysis patients, the authors evaluate risk factors for IDH. Advanced age, female sex and autonomic insufficiency are risk factors for IDH. Patients with ...
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