Article

Heterozygous Familial Hypobetalipoproteinemia in Children and Adolescents: Time and tide wait for no man

2025-09-02

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. Heterozygous patients are often asymptomatic, but the genetic mutation causes a defect of exportation of VLDL from the hepatocytes that remain stuck in the liver causing steatosis. In childhood, the diagnosis of FHBL is often underestimated...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: aca1caa4-5901-5ed2-96c2-0824e2b26f51
DOI: 10.21203/rs.3.rs-7443290/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Heterozygous Familial Hypobetalipoproteinemia in Children and Adolescents: Time and tide wait for no manDOI 10.21203/rs.3.rs-7443290/v1Read

Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.Semantic proximity Read

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population studySemantic proximity Read

Hypotriglyceridemias/hypolipidemias.Semantic proximity Read

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.Semantic proximity Read

Successful Management of a 29-Day-Old Infant with Severe Hyperlipidemia from a Novel Homozygous Variant of GPIHBP1 GeneSemantic proximity Read

Case Studies in Pediatric Lipid Disorders and Their Management.Semantic proximity Read

Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.Semantic proximity Read

Familial Hypobetalipoproteinemia: An Underrecognized Cause of Lean NASH.Semantic proximity Read

MASLD In Children - A Distinct Phenotype?Semantic proximity Read

Abnormal blood pressure and pediatric obesity phenotype: Red flags for clinical practice.Semantic proximity Read

Dysbetalipoproteinemia is overlooked and dangerous.Semantic proximity Read

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.Semantic proximity Read