ALLMedicine Hypobetalipoproteinemia Center
Research & Reviews 93 results
https://doi.org/10.1097/MOL.0000000000000663
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 ...
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...
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...
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220563
Lipids in Health and Disease; Cariou B, Challet-Bouju G et. al.
Nov 7th, 2018 - Hypobetalipoproteinemia (HBL) is defined by plasma concentrations of LDL-cholesterol (LDL-C) lower than the fifth percentile for age and sex. Several psychiatric symptoms have been reported in association with HBL. The objective was to assess the ...
Guidelines 1 results
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...
Clinicaltrials.gov 95 results
https://doi.org/10.1097/MOL.0000000000000663
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 ...
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...
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...
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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220563
Lipids in Health and Disease; Cariou B, Challet-Bouju G et. al.
Nov 7th, 2018 - Hypobetalipoproteinemia (HBL) is defined by plasma concentrations of LDL-cholesterol (LDL-C) lower than the fifth percentile for age and sex. Several psychiatric symptoms have been reported in association with HBL. The objective was to assess the ...
News 1 results
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...
