Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis

Abstract Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss of function variants in one of five known canonical genes involved in chylomicron lipolysis and clearance—LPL, APOC2, APOA5, LMF1, and GPIHBP1. Pathogenic variants in LPL, which encodes...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G. Bannister, Natasha J. Brown, Maureen S. Evans, Sharmila Kiss, Thomas H. Rozen, Joy Yaplito‐Lee
Format:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2024-07-01
Serier:	JIMD Reports
Fag:	familial chylomicronemia syndrome hypertriglyceridemia lipoprotein lipase pancreatitis
Online adgang:	https://doi.org/10.1002/jmd2.12434
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!