Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB Mutations

Familial Hypercholesterolemia (FH) is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case...

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Autores principales: Ana Cristina Ferreira, Ana Catarina Alves, Ana Margarida Medeiros, Gonçalo Padeira, Mafalda Bourbon
Formato: article
Lenguaje:EN
PT
Publicado: Sociedade Portuguesa de Pediatria 2021
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Acceso en línea:https://doaj.org/article/1e7ca78b4c0c49638b433fbca55718e1
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