Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. Neonatal onset LPL deficiency is rare. The purpose of this study was to clarify the clinical features of neon...

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Detalles Bibliográficos
Autores principales: Wu, Yun Qin, Hu, Yue Yuan, Li, Gui Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451144/
https://www.ncbi.nlm.nih.gov/pubmed/34544385
http://dx.doi.org/10.1186/s12887-021-02875-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451144/
https://www.ncbi.nlm.nih.gov/pubmed/34544385
http://dx.doi.org/10.1186/s12887-021-02875-x

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