Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we re-evaluated the clinical and the biochemical characteristics of all reported cases of FHBL2.
CLINICAL CHARACTERISTICS AND PLASMA LIPIDS IN SUBJECTS WITH FAMILIAL COMBINED HYPOLIPIDEMIA: A POOLED ANALYSIS / Minicocci, Ilenia; Santini, Sara; Cantisani, V.; Stitziel, N.; Kathiresan, S.; Arroyo, J. A.; Martí, G.; Pisciotta, L.; Noto, D.; Cefalù, A. B.; Maranghi, Marianna; Labbadia, Giancarlo; Pigna, Giovanni; Pannozzo, F.; Ceci, Fabrizio; Ciociola, Ester; Bertolini, S.; Calandra, S.; Tarugi, P.; Averna, M.; Arca, Marcello. - In: GIORNALE ITALIANO DELL'ARTERIOSCLEROSI. - ISSN 2240-4821. - STAMPA. - 4:(2013), pp. 100-100. (Intervento presentato al convegno 27° Congresso Nazionale della Società Italiana per lo Studio dell’Arteriosclerosi. tenutosi a Roma nel 27-29 Novembre 2013).
CLINICAL CHARACTERISTICS AND PLASMA LIPIDS IN SUBJECTS WITH FAMILIAL COMBINED HYPOLIPIDEMIA: A POOLED ANALYSIS
MINICOCCI, ILENIA;SANTINI, SARA;MARANGHI, MARIANNA;LABBADIA, Giancarlo;PIGNA, GIOVANNI;CECI, Fabrizio;CIOCIOLA, ESTER;ARCA, Marcello
2013
Abstract
Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we re-evaluated the clinical and the biochemical characteristics of all reported cases of FHBL2.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
