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]

dc.creatorTakata R.T.
dc.creatorSchreiber R.
dc.creatorPrado E.
dc.creatorMori M.
dc.creatorDe Faria E.C.
dc.date2010
dc.date2015-06-26T12:35:33Z
dc.date2015-11-26T15:25:36Z
dc.date2015-06-26T12:35:33Z
dc.date2015-11-26T15:25:36Z
dc.date.accessioned2018-03-28T22:34:23Z
dc.date.available2018-03-28T22:34:23Z
dc.identifier
dc.identifierRevista Paulista De Pediatria. , v. 28, n. 4, p. 405 - 408, 2010.
dc.identifier1030582
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-78751653516&partnerID=40&md5=568a96e8dc55cd063c803e193aa3bf7a
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/90950
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/90950
dc.identifier2-s2.0-78751653516
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1260944
dc.descriptionObjective: 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.
dc.description28
dc.description4
dc.description405
dc.description408
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dc.languagept
dc.publisher
dc.relationRevista Paulista de Pediatria
dc.rightsaberto
dc.sourceScopus
dc.titleFirst 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]
dc.typeArtículos de revistas


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