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Lipoprotein lipase deficiency in an infant

Publication Type : Journal Article

Publisher : Indian Pediatrics

Source : Indian Pediatrics, Volume 48, Number 10, p.805-806 (2011)

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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.

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