Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene

BACKGROUND: Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. FINDINGS: An 11-week-old, exclusively breastfed male presented with cof...

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Detalles Bibliográficos
Autores principales: Soto, Angela Ganan, McIntyre, Adam, Agrawal, Sungeeta, Bialo, Shara R., Hegele, Robert A., Boney, Charlotte M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559337/
https://www.ncbi.nlm.nih.gov/pubmed/26337181
http://dx.doi.org/10.1186/s12944-015-0107-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559337/
https://www.ncbi.nlm.nih.gov/pubmed/26337181
http://dx.doi.org/10.1186/s12944-015-0107-1

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