Hipertrigliceridemia grave em lactente: um caso de síndrome de quilomicronemia familiar

• Hoofdauteurs: Janinne Barboza Rangel (Auteur), Wallace William da Silva Meireles (Auteur), Ana Carolina Rathsam Leite (Auteur), Cristina Touguinha Neves Medina (Auteur), Maria Teresinha de Oliveira Cardoso (Auteur), Romina Soledad Heredia Garcia Silva (Auteur)
• Formaat: Boek
• Gepubliceerd in: Sociedade Brasileira de Pediatria, 2024-03-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive monogenic disease, affecting 1:1,000,000000. A hallmark of the disease is the severe hypertriglyceridemia caused by either lipoprotein lipase (LPL) enzyme deficiency or one of its cofactors, compromising triglycerides (TG) metabo...