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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
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Broader (1)

Hypobetalipoproteinemia, Familial, Apolipoprotein B

Papers overview

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Review
2014
Review
2014
Update on Primary Hypobetalipoproteinemia
Abstract“Primary hypobetalipoproteinemia” refers to an eclectic group of inherited lipoprotein disorders characterized by low… Expand
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2014
2014
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
BACKGROUND & AIMS Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and… Expand
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2009
2009
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
BACKGROUND Abetalipoproteinemia (ABL) and Homozygous Familial Hypobetalipoproteinemia (Ho-FHBL) are rare monogenic diseases… Expand
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2008
2008
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.
Homozygous familial hypobetalipoproteinaemia (Ho-FHBL) is a rare co-dominant disorder characterized by extremely low levels of… Expand
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2007
2007
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL) is associated with mutations in the APOB gene. We reported the first missense APOB… Expand
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Review
2005
Review
2005
Familial hypobetalipoproteinemia: genetics and metabolism
Abstract.Familial hypobetalipoproteinemia (FHBL), an autosomal dominant disorder, is defined as <5th percentile LDL-cholesterol… Expand
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2003
2003
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder of lipoprotein metabolism characterized by low levels of… Expand
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2002
2002
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB… Expand
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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… Expand
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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… Expand
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