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A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis...

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Detalles Bibliográficos
Autores principales: Sustar, Ursa, Groselj, Urh, Khan, Sabeen Abid, Shafi, Saeed, Khan, Iqbal, Kovac, Jernej, Bizjan, Barbara Jenko, Battelino, Tadej, Sadiq, Fouzia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424485/
https://www.ncbi.nlm.nih.gov/pubmed/36051701
http://dx.doi.org/10.3389/fgene.2022.983283