Cargando…
Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation
BACKGROUND: Among many causes of hypertriglyceridemia (HTG), familial chylomicronemia syndrome (FCS) is a rare monogenic disorder that manifests as severe HTG and acute pancreatitis. Among the known causal genes for FCS, mutations in APOC2 only account for <2% of cases. Medical nutrition therapy...
Autores principales: | Ueda, Masako, Wolska, Anna, Burke, Frances M., Escobar, Maria, Walters, Laura, Lalic, Dusanka, Hegele, Robert A., Remaley, Alan T., Rader, Daniel J., Dunbar, Richard L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149354/ https://www.ncbi.nlm.nih.gov/pubmed/32292609 http://dx.doi.org/10.1155/2020/1865489 |
Ejemplares similares
-
OR21-3 Familial Chylomicronemia Syndrome: Distinguishing the Rare Among the Common in Adults for Appropriate Management
por: Ueda, Masako, et al.
Publicado: (2019) -
SAT-578 A Rare Case of Laboratory Hypertriglyceridemia: Glycerol Kinase Deficiency
por: Ueda, Masako, et al.
Publicado: (2020) -
APOC3 Interference for Familial Chylomicronaemia Syndrome
por: Hegele, Robert A
Publicado: (2022) -
SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation
por: Ueda, Masako, et al.
Publicado: (2020) -
Short hydrocarbon stapled ApoC2-mimetic peptides activate lipoprotein lipase and lower plasma triglycerides in mice
por: Sviridov, Denis, et al.
Publicado: (2023)