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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Materias: | |
| 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 |