DPSPDNT - Posters/abstracts em congressos internacionais
URI permanente para esta coleção:
Navegar
Percorrer DPSPDNT - Posters/abstracts em congressos internacionais por autor "Abrantes, Leonor"
A mostrar 1 - 1 de 1
Resultados por página
Opções de ordenação
- Familial Chylomicronemia Syndrome: clinical and molecular characterization of individuals WITH clinical diagnosis in PortugalPublication . Alves, Ana Catarina; Abrantes, Leonor; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, Rute; Duarte, Sequeira; Guerra, António; Gaspar, Ana; Salgado, Miguel; Azevedo, Aida; Rato, Quitéria; Palma, Isabel; Bourbon, MafaldaAim: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, and liapemia retinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL). The aim of this study is to present all cases with FCS clinical diagnosis, studied in our laboratory.