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Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misd...

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Detalles Bibliográficos
Autores principales: Zhang, Yonghong, Zhou, Jing, Zheng, Wenxin, Lan, Zhangzhang, Huang, Zhiwei, Yang, Qingnan, Liu, Chengbo, Gao, Rui, Zhang, Yongjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859971/
https://www.ncbi.nlm.nih.gov/pubmed/27153815
http://dx.doi.org/10.1186/s12944-016-0254-z