A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis

CONTEXT: Familial chylomicronemia syndrome (FCS) is a rare heritable disorder associated with severe hypertriglyceridemia and recurrent pancreatitis. Lipoprotein lipase deficiency and apolipoprotein C-II deficiency are two well-characterized autosomal recessive causes of FCS, and three other genes h...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Ueda, Masako, Dunbar, Richard L., Wolska, Anna, Sikora, Tracey U., Escobar, Maria del Rosario, Seliktar, Naomi, deGoma, Emil, DerOhannessian, Stephanie, Morrell, Linda, McIntyre, Adam D., Burke, Frances, Sviridov, Denis, Amar, Marcelo, Shamburek, Robert D., Freeman, Lita, Hegele, Robert A., Remaley, Alan T., Rader, Daniel J.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6283445/
https://ncbi.nlm.nih.gov/pubmed/28201738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3903
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