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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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Highly Cited
2014
Highly Cited
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
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
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
Highly Cited
2007
Highly Cited
2007
Missense Mutations in APOB within the βα1 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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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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Highly Cited
2000
Highly Cited
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
Highly Cited
1999
Highly Cited
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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Highly Cited
1995
Highly Cited
1995
Apoprotein B-100 production is decreased in subjects heterozygous for truncations of apoprotein B.
Among individuals who are heterozygous for familial hypobetalipoproteinemia (FHBL) and who have various truncations of apoprotein… Expand
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