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Publication Type : Journal Article
Publisher : Indian Pediatrics
Source : Indian Pediatrics, Volume 48, Number 10, p.805-806 (2011)
Keywords : alpha tocopherol, amino acid substitution, apoC II gene, article, case report, cholesterol, cholesterol blood level, diet, disease severity, DNA Mutational Analysis, exon, Fat-Restricted, follow up, gene, gene mutation, gene sequence, hepatomegaly, heterozygosity, human, Humans, hyperlipidemia, hyperlipoproteinemia type 1, Hyperlipoproteinemia Type I, hypertriglyceridemia, infant, Lipoprotein Lipase, lipoprotein lipase gene, low fat diet, male, medium chain triacylglycerol, multivitamin, promoter region, triacylglycerol, very low density lipoprotein
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2011
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.
Cite this Research Publication : Sa Nampoothiri, Radhakrishnan, Nb, Schwentek, Ac, and Hoffmann, M. Ma, “Lipoprotein lipase deficiency in an infant”, Indian Pediatrics, vol. 48, pp. 805-806, 2011.