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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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| Publicado no: | Lipids Health Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4559337/ https://ncbi.nlm.nih.gov/pubmed/26337181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12944-015-0107-1 |
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