Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review

BackgroundFamilial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the APOB gene that frequently interferes with protein length. Clinical manifestations include malabsorption, non-alcoholic fatty liver disease, low levels of lipid-soluble vitamins,...

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Bibliographic Details
Main Authors: Neza Molk, Mojca Bitenc, Darja Urlep, Mojca Zerjav Tansek, Sara Bertok, Katarina Trebusak Podkrajsek, Ursa Sustar, Jernej Kovac, Tadej Battelino, Marusa Debeljak, Urh Groselj
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Medicine
Subjects:
APOB
APOB gene
familial hypobetalipoproteinemia
nonalcoholic steatohepatitis
hypocholesterolemia
pediatric
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1106441/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2023.1106441/full

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