Cargando…
Neonatal hyperlipidemia with pancreatitis: Novel gene mutation of lipoprotein lipase
Lipoprotein lipase (LPL) deficiency is an autosomal recessive metabolic disorder with varying presentation in infancy and childhood, whereas clinical manifestations are rare in neonatal period. The estimated prevalence is one in a million births. A 23-day-old baby was admitted with complaints of fev...
Autores principales: | Shah, MH, Roshan, R, Desai, R, Kadam, SS |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198689/ https://www.ncbi.nlm.nih.gov/pubmed/30147083 http://dx.doi.org/10.4103/jpgm.JPGM_731_17 |
Ejemplares similares
-
Gestational hyperlipidemia and acute pancreatitis with underlying partial lipoprotein lipase deficiency and apolipoprotein E3/E2 genotype
por: Han, Dong Hee, et al.
Publicado: (2013) -
The lipoprotein lipase gene in combined hyperlipidemia: evidence of a protective allele depletion
por: Wung, Shu-Fen, et al.
Publicado: (2006) -
Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation‐associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report
por: Zhang, Xiaojuan, et al.
Publicado: (2021) -
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene
por: López-Ruiz, Antonio, et al.
Publicado: (2009) -
A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis
por: Chen, Tan-Zhou, et al.
Publicado: (2014)