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Familial hypobetalipoproteinemia
Known as:
HYPOBETALIPOPROTEINEMIA, FAMILIAL
, FHBL
, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
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National Institutes of Health
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Related topics
Related topics
8 relations
Abetalipoproteinemia
Acanthocytosis
Ataxia
Autosomal recessive inheritance
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Broader (1)
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
M. Di Filippo
,
P. Moulin
,
+24 authors
A. Sassolas
Journal of hepatology
2014
Corpus ID: 5985308
Review
2014
Review
2014
Update on Primary Hypobetalipoproteinemia
A. Hooper
,
J. Burnett
Current Atherosclerosis Reports
2014
Corpus ID: 5076412
Abstract“Primary hypobetalipoproteinemia” refers to an eclectic group of inherited lipoprotein disorders characterized by low…
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2008
2008
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations
E. Di Leo
,
L. Magnolo
,
+5 authors
P. Tarugi
Clinical genetics
2008
Corpus ID: 40893418
Homozygous familial hypobetalipoproteinaemia (Ho‐FHBL) is a rare co‐dominant disorder characterized by extremely low levels of…
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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*
J. Burnett
,
S. Zhong
,
+11 authors
Z. Yao
Journal of Biological Chemistry
2007
Corpus ID: 30159014
Familial hypobetalipoproteinemia (FHBL) is associated with mutations in the APOB gene. We reported the first missense APOB…
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Review
2005
Review
2005
Familial hypobetalipoproteinemia: genetics and metabolism
G. Schonfeld
,
X. Lin
,
P. Yue
Cellular and Molecular Life Sciences
2005
Corpus ID: 9054743
Abstract.Familial hypobetalipoproteinemia (FHBL), an autosomal dominant disorder, is defined as <5th percentile LDL-cholesterol…
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2003
2003
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia
A. J. Whitfield
,
A. Marais
,
K. Robertson
,
P. Barrett
,
F. V. Bockxmeer
,
J. Burnett
Human mutation
2003
Corpus ID: 22231577
Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder of lipoprotein metabolism characterized by low levels of…
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2002
2002
Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.
R. Neuman
,
Bo Yuan
,
+5 authors
G. Schonfeld
Journal of lipid research
2002
Corpus ID: 25507236
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB…
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Highly Cited
2000
Highly Cited
2000
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.
B. Yuan
,
R. Neuman
,
+6 authors
G. Schonfeld
American journal of human genetics
2000
Corpus ID: 21925186
Familial hypobetalipoproteinemia (FHBL) is an apparently autosomal dominant disorder of lipid metabolism characterized by less…
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Highly Cited
1999
Highly Cited
1999
Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
N. Elias
,
B. Patterson
,
G. Schonfeld
Arteriosclerosis, thrombosis, and vascular…
1999
Corpus ID: 10271805
Familial hypobetalipoproteinemia (FHBL) is an autosomal codominant disorder characterized by low levels of apolipoprotein (apo) B…
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1995
1995
Familial hypobetalipoproteinemia is not associated with low levels of lipoprotein(a).
M. Averna
,
S. Marcovina
,
D. Noto
,
T. Cole
,
E. Krul
,
G. Schonfeld
Arteriosclerosis, thrombosis, and vascular…
1995
Corpus ID: 23762221
To assess whether very low concentrations of LDL affected lipoprotein(a) [Lp(a)] concentrations and apo(a) associations with…
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