SAT-082 Severe Hypertriglyceridemia Associated with a PRKAA1 Gene Mutation Coding for the Alpha1-Subunit of AMPK

Background: AMP-activated protein kinase (AMPK) is implicated in several aspects of lipid metabolism including the suppression of de novo lipogenesis, promotion of fatty acid oxidation, and regulation of adipose tissue biology. We report a patient with severe hypertriglyceridemia harboring a heteroz...

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Detalles Bibliográficos
Autores principales: Jaime Villalonga, Alejandro, Bale, Allen, Smith, Mike, Majumdar, Sachin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Cardiovascular Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552474/
http://dx.doi.org/10.1210/js.2019-SAT-082

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