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

BACKGROUND: Familial 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 vitamin...

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Detalles Bibliográficos
Autores principales: Molk, Neza, Bitenc, Mojca, Urlep, Darja, Zerjav Tansek, Mojca, Bertok, Sara, Trebusak Podkrajsek, Katarina, Sustar, Ursa, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10293746/
https://www.ncbi.nlm.nih.gov/pubmed/37384046
http://dx.doi.org/10.3389/fmed.2023.1106441

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10293746/
https://www.ncbi.nlm.nih.gov/pubmed/37384046
http://dx.doi.org/10.3389/fmed.2023.1106441

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