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Familial hypobetalipoproteinemia

Known as: HYPOBETALIPOPROTEINEMIA, FAMILIAL, FHBL, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 
National Institutes of Health

Related topics

Related topics

8 relations
AbetalipoproteinemiaAcanthocytosisAtaxiaAutosomal recessive inheritance

Broader (1)

Hypobetalipoproteinemia, Familial, Apolipoprotein B

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Clinical and biochemical characteristics of individuals with low cholesterol syndromes : a comparison between Familial Hypobetalipoproteinemia ( FHBL 1 ) and Familial combined hypolipidemia ( FHBL 2…
Background . The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1), due to… 
2016
2016
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
2016
2016
Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.
2016
2016
Think About the Application of Vitamin E to Heterozygous Familial Hypobetalipoproteinemia to Prevent Liver Cirrhosis and Hepatocellular Carcinoma
Familial hypobetalipoproteinemia (FHBL) is a rare genetic disease characterized by low levels of low-density lipoprotein (LDL… 
2016
2016
Identifying and analyzing genetic and epigenetic variation involved in cardiovascular diseases and related metabolic traits
Author(s): Nikkola, Elina | Advisor(s): Pajukanta, Paivi E | Abstract: Cardiovascular disease (CVD) is the most common cause of… 
2014
2014
Hepatic steatosis and fibrosis despite metabolic differences in congenital hypo-cholesterolemia due to homozygous MTTP and APOB mutations
electronic word count: 241 5 Number of figures: 4 6 Number of tables: 4 7 List of abbreviations 8 NAFLD non-alcoholic fatty liver… 
Review
2011
Review
2011
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.
2008
2008
Fatty liver and insulin resistance: not always linked.
One significant clinical symptom of familial hypobetalipoproteinemia [FHBL] due to defects in apolipoprotein B (apoB) is… 
2007
2007
Circulating Cell-Free Placental mRNA in the Maternal Plasma as a Predictive Marker for Twin-Twin Transfusion Syndrome To the Editor: Twin-twin transfusion syndrome
that the novel c.G1124A mutation causes FHBL by disrupting splicing. We identified 3 family members who were heterozygous for… 
1981
1981
[Familial hypobetalipoproteinemia].
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This… 
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