About 110 results

ALLMedicine™ Hypobetalipoproteinemia Center

Research & Reviews  38 results

Familial Hypobetalipoproteinemia: An Underrecognized Cause of Lean NASH.
Hepatology (Baltimore, Md.); Buryska S, Ahn JC et. al.

Jun 7th, 2021 - Familial Hypobetalipoproteinemia: An Underrecognized Cause of Lean NASH.|2021|Buryska S,Ahn JC,Allen AM,Simha V,Simonetto DA,|

APOB-Related Familial Hypobetalipoproteinemia - GeneReviews® - NCBI Bookshelf

May 13th, 2021 - Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic d...

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intes...
https://doi.org/10.1097/MPG.0000000000003145 10.1186/1750-1172-5-24 10.1186/1750-1172-6-1 10.1136/jmg.2004.029454 10.1002/humu.9163 10.1186/s13023-016-0498-8. 10.1186/1750-1172-3-19
Journal of Pediatric Gastroenterology and Nutrition; Sissaoui S, Cochet M et. al.

Apr 15th, 2021 - Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipop...

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arteriosclerosis, Thrombosis, and Vascular Biology; Rimbert A, Vanhoye X et. al.

Nov 20th, 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...

Rare Diseases Related with Lipoprotein Metabolism.
Advances in Experimental Medicine and Biology; Zhou H, Gong Y et. al.

Jul 25th, 2020 - Rare diseases are gathering increasing attention in last few years, not only for its effects on innovation scientific research, but also for its propounding influence on common diseases. One of the most famous milestones made by Michael Brown and ...

see more →

Clinicaltrials.gov  3 results

Prevalence of fAmilial hypobetalipopRoTeinemIa in psychiaTrIc pOpulatioN (PARTITION)

Aug 29th, 2018 - Some forms of hypobetalipoproteinemia (HBL) are associated with a longevity syndrome and cardiovascular protection due to prolonged exposure to low levels of LDL-C. However, while LDL-C reduction has been studied extensively for its beneficial eff...

Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia

Jul 14th, 2017 - Familial hypobetalipoproteinemia (FHBL, OMIM # 1707730) is a genetic disorder heterozygotic of LDL-C metabolism (Low Density Lipoprotein - Cholesterol) whose incidence is measured from 1: 500 to 1: 1000. These heterozygous individuals may be asymp...

Mechanisms of Low Levels of Apolipoprotein B

Jul 29th, 2016 - BACKGROUND: Elevated apoB levels are associated with an increased risk of coronary heart disease. Hypobetalipoproteinemia (HBLP) is characterized by apoB levels less than the 5 percentile. Dr. Welty, the principal investigator, sequenced mutations...

see more →

News  3 results

Lean Patients, Yet Still at Risk for Fatty Liver Disease

Sep 20th, 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. ...

The Emerging Epidemic of Nonalcoholic Fatty Liver Disease

Jan 21st, 2011 - The Spectrum of Nonalcoholic Fatty Liver Nonalcoholic fatty liver disease (NAFLD) includes the clinical-pathologic entities of steatosis (nonalcoholic fatty liver, or NAFL) and nonalcoholic steatohepatitis (NASH) with or without fibrosis and cirrh...

Could the Genetic Cause of an Uncommon Lipidemia Serve as a New Anti-Cholesterol Target?

Dec 10th, 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...

see more →