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

Autor: Heath O; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Australia., Allender B; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne Australia., Smith J; Laboratory Services, The Royal Children's Hospital Melbourne Australia.; Department of Pathology, The Royal Melbourne Hospital Melbourne Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Australia., Spencer L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Australia., Bannister EG; Department of Gastroenterology University of Melbourne Melbourne Australia., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Australia.; Department of Paediatrics University of Melbourne Melbourne Australia., Evans MS; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne Australia., Kiss S; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne Australia., Rozen TH; Department of Paediatrics University of Melbourne Melbourne Australia.; Paediatric Intensive Care Unit, The Royal Children's Hospital Melbourne Australia., Yaplito-Lee J; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Australia.

Publikováno v: JIMD reports [JIMD Rep] 2024 Jun 02; Vol. 65 (4), pp. 239-248. Date of Electronic Publication: 2024 Jun 02 (Print Publication: 2024).