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About 201 results

ALLMedicine™ Hypobetalipoproteinemia Center

Research & Reviews  97 results

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
https://doi.org/10.1161/ATVBAHA.120.315491
Arteriosclerosis, Thrombosis, and Vascular Biology; Rimbert A, Vanhoye X et. al.

Nov 19th, 2020 - Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile. Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the APOB (apolipoprotein B) an...

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular dise...
https://doi.org/10.1097/MOL.0000000000000663 10.1038/ejhg.2014.225 10.1038/ejhg.2014.224
Current Opinion in Lipidology; Welty FK

Feb 10th, 2020 - Several mutations in the apolipoprotein (apo) B, proprotein convertase subtilisin kexin 9 (PCSK9) and microsomal triglyceride transfer protein genes result in low or absent levels of apoB and LDL cholesterol (LDL-C) in plasma which cause familial ...

Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic revi...
https://doi.org/10.1111/tbj.13341
The Breast Journal; Lima Pessoa E, Costa Vilella Dos Reis M et. al.

May 21st, 2019 - Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.|2019|Lima Pessoa E,Costa Vilella Dos Reis M,Sayuri Yamamoto T,Ribeiro Neto M,Ferraro O,|blood,etiology,genetics,complic...

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044908
Circulation. Genomic and Precision Medicine; Peloso GM, Nomura A et. al.

Apr 2nd, 2019 - Background Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (low-density lipoprotein) and triglyceride-rich lip...

Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypochole...
https://doi.org/10.1016/j.atherosclerosis.2019.01.036
Atherosclerosis Blanco-Vaca F, Martin-Campos JM et. al.

Feb 20th, 2019 - Primary hypobetalipoproteinemia is generally considered a heterogenic group of monogenic, inherited lipoprotein disorders characterized by low concentrations of LDL cholesterol and apolipoprotein B in plasma. Lipoprotein disorders include abetalip...

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Guidelines  1 results

Guidelines for the diagnosis and management of chylomicron retention disease based on a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956717
Orphanet Journal of Rare Diseases; Peretti N, Sassolas A et. al.

Oct 5th, 2010 - Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as o...

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Clinicaltrials.gov  101 results

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
https://doi.org/10.1161/ATVBAHA.120.315491
Arteriosclerosis, Thrombosis, and Vascular Biology; Rimbert A, Vanhoye X et. al.

Nov 19th, 2020 - Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile. Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the APOB (apolipoprotein B) an...

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular dise...
https://doi.org/10.1097/MOL.0000000000000663 10.1038/ejhg.2014.225 10.1038/ejhg.2014.224
Current Opinion in Lipidology; Welty FK

Feb 10th, 2020 - Several mutations in the apolipoprotein (apo) B, proprotein convertase subtilisin kexin 9 (PCSK9) and microsomal triglyceride transfer protein genes result in low or absent levels of apoB and LDL cholesterol (LDL-C) in plasma which cause familial ...

Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic revi...
https://doi.org/10.1111/tbj.13341
The Breast Journal; Lima Pessoa E, Costa Vilella Dos Reis M et. al.

May 21st, 2019 - Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.|2019|Lima Pessoa E,Costa Vilella Dos Reis M,Sayuri Yamamoto T,Ribeiro Neto M,Ferraro O,|blood,etiology,genetics,complic...

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044908
Circulation. Genomic and Precision Medicine; Peloso GM, Nomura A et. al.

Apr 2nd, 2019 - Background Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (low-density lipoprotein) and triglyceride-rich lip...

Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypochole...
https://doi.org/10.1016/j.atherosclerosis.2019.01.036
Atherosclerosis Blanco-Vaca F, Martin-Campos JM et. al.

Feb 20th, 2019 - Primary hypobetalipoproteinemia is generally considered a heterogenic group of monogenic, inherited lipoprotein disorders characterized by low concentrations of LDL cholesterol and apolipoprotein B in plasma. Lipoprotein disorders include abetalip...

see more →

News  2 results

Lean Patients, Yet Still at Risk for Fatty Liver Disease
https://www.medscape.com/viewarticle/868783_4

Sep 19th, 2016 - Defining an Effective Management Strategy When it comes to managing these patients, awareness and case recognition are crucial. An initial step in the evaluation of lean patients with presumed NAFLD is to rule out metabolic causes of fatty liver. ...

Could the Genetic Cause of an Uncommon Lipidemia Serve as a New Anti-Cholesterol Target?
https://www.medscape.com/viewarticle/733572

Dec 9th, 2010 - Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia Musunuru K, Pirruccello JP, Do R, et al N Engl J Med. 2010 Oct 13 [Epub ahead of print] Summary Familial hypobetalipoproteinemia (FHBL) is an uncommon inherited disorder char...

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