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Familial hypobetalipoproteinemia

Known as: FHBL, Hypobetalipoproteinemia, Normotriglyceridemic, Hypobetalipoproteinemia, Familial, 1 
 

Topic mentions per year

Topic mentions per year

1974-2015
024619742015

Related topics

Related topics

7 relations
AbetalipoproteinemiaAcanthocytosisAtaxiaAutosomal recessive inheritance
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Familial hypobetalipoproteinemia
Ataxia
Autosomal recessive inheritance
Retinal Degeneration
Abetalipoproteinemia
Hypocholesterolemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia.
BACKGROUND & AIMS Hepatic steatosis is associated with insulin resistance, but it is not clear whether increased intrahepatic… (More)
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2009
2009
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.
OBJECTIVE Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulation of cholesterol homeostasis… (More)
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2007
2007
Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia.
OBJECTIVE Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipoprotein metabolism… (More)
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2003
2003
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL), an autosomal co-dominant disorder, is associated with reduced plasma concentrations… (More)
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2003
2003
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.
Familial hypobetalipoproteinemia (FHBL) subjects may develop fatty liver. Liver fat was assessed in 21 FHBL with six different… (More)
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2002
2002
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol… (More)
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2000
2000
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.
Familial hypobetalipoproteinemia (FHBL) is an apparently autosomal dominant disorder of lipid metabolism characterized by less… (More)
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1999
1999
Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL) is an autosomal codominant disorder characterized by low levels of apolipoprotein (apo) B… (More)
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1998
1998
Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.
Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder of lipid metabolism characterized by extremely low… (More)
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1993
1993
Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice.
Familial hypobetalipoproteinemia is an autosomal codominant disorder resulting in a dramatic reduction in plasma concentrations… (More)
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