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Primary Hyperoxaluria type 1 – Two Case Reports
Ganhão, I; Borges, C; Amorim, M; Braga da Cruz, M; Nobre, S; Francisco, T; Cardoso, D; Abranches, MPrimary hyperoxaluria type 1 is a rare autosomal recessive inherited disease, caused by mutations in AGXT gene, with an estimated incidence of 1:100.000 live births per year in Europe. Over 50% present with end stage renal disease at diagnosis. Case reports: The first case is a 14‑year‑old boy, second child to consanguineous parents, with history of recurrent lithiasis and ureteral dilatation starting 5 years b...
Date: 2020
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Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Obstructive lung diseases and beta-blockers: Where do we stand?
Pité, H; Braga da Cruz, M; Morais-Almeida, M
Date: 2016
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Origin: Saúde - CUF