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...

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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
格式:	Artigo
語言:	Inglês
出版:	Wiley 2024-07-01
叢編:	JIMD Reports
主題:	familial chylomicronemia syndrome hypertriglyceridemia lipoprotein lipase pancreatitis
在線閱讀:	https://doi.org/10.1002/jmd2.12434
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