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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Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Wiley 2024-07-01
Σειρά:	JIMD Reports
Θέματα:	familial chylomicronemia syndrome hypertriglyceridemia lipoprotein lipase pancreatitis
Διαθέσιμο Online:	https://doi.org/10.1002/jmd2.12434
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