| Literature DB >> 22080683 |
Sheela Nampoothiri1, Natasha Radhakrishnan, Andrea Schwentek, Michael Marcus Hoffmann.
Abstract
Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.Entities:
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Year: 2011 PMID： 22080683
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411