Associated Papers
Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.
Anlas O et al.
Biochemical Genetics, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Bashir B et al.
Genetics in Medicine Open, 2025
Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.
Rabbani B et al.
International Journal of Genomics, 2024
Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation.
Ueda M et al.
Case Reports in Endocrinology, 2020
A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.
Ueda M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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