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|Type:||Artigo de periódico|
|Title:||First Report Of A Brazilian Child Carrying The G188e Mutation Of Lipoprotein Lipase Gene [primeiro Relato De Uma Criança Brasileira Portadora Da Mutação G188e Do Gene Da Lipoproteína Lipase]|
De Faria E.C.
|Abstract:||Objective: To report the case of a child with serious hypertriglyceridemia due to lipase lipoprotein gene mutation. Case description: A three-year-old boy presented with lipemic serum at one month of age. His lipid profile revealed serious hypertriglyceridemia with plasma triglycerides levels of 25,000mg/dL. A mutation G188E in éxon 5 of the lipoprotein lipase gene was detected in homozygosis for him and in heterozygosis for his parents. Comments: The deficiency of the lipoprotein lipase is a recessive autossomal disease that causes severe hypertriglyceridemia.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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