ReviewJournal of inherited metabolic disease2014
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
Review in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
65 citing papers in PubMed, 196 citations in OpenAlex.
- Hypocholesterolemia in liver and cardiovascular disease: Friend or foe?Journal of internal medicine · 2026Review
- NovelVeterinary and animal science · 2026Article
- Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.Journal of clinical and translational hepatology · 2025Review
- Directly Measuring Atherogenic Lipoprotein Kinetics in Zebrafish With the Photoconvertible LipoTimer Reporter.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Metabolic Dysfunction-Associated Steatotic Liver Disease: From a Very Low-Density Lipoprotein Perspective.Biomolecules · 2025Review
- A Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia.Medical research archives · 2024Article
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.Journal of atherosclerosis and thrombosis · 2024Review
- ApoB100 and Atherosclerosis: What's New in the 21st Century?Metabolites · 2024Review
- Review
- High-fat diet reveals the impact of Sar1b defects on lipid and lipoprotein profile and cholesterol metabolism.Journal of lipid research · 2023Article
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.JHEP reports : innovation in hepatology · 2023Article
- Gene transfer and genome editing for familial hypercholesterolemia.Frontiers in molecular medicine · 2023Review
- Screening and Management of Dyslipidemia in Children and Adolescents.Journal of clinical medicine · 2022Review
- Metabolism of triglyceride-rich lipoproteins in health and dyslipidaemia.Nature reviews. Cardiology · 2022Review
- Treatable Ataxias: How to Find the Needle in the Haystack?Journal of movement disorders · 2022Article
- The role of lipid metabolism in shaping the expansion and the function of regulatory T cells.Clinical and experimental immunology · 2022Review
- Metabolism of Triglyceride-Rich Lipoproteins.Handbook of experimental pharmacology · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Abetalipoproteinemia (ABL; OMIM 200100) and homozygous hypobetalipoproteinemia (HHBL; OMIM 107730) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein (apo) B-containing lipoprotein particles due to mutations either in both alleles of the MTP (alias MTTP) gene encoding microsomal triglyceride transfer protein (MTP) or both alleles of the APOB gene itself in the case of ABL and HHBL, respectively. Clinical diagnosis is based on signs and symptoms, acanthocytosis on blood smear, and virtually absent apo B-containing lipoproteins, including chylomicrons, very low density lipoprotein and low density lipoprotein. Obligate heterozygote parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, while heterozygous parents of HHBL patients typically have half normal levels of apo B-containing lipoproteins consistent with autosomal co-dominant inheritance. Definitive diagnosis involves sequencing the MTP and APOB genes, for which >30 and >60 mutations have been described for ABL and HHBL, respectively. Follow-up includes monitoring for ophthalmologic, neurologic, hematologic, and hepatic complications, as well as compliance with treatment. Investigations include lipid profile, serum transaminases, markers for lipid-soluble vitamins, and periodic instrumental assessment of ocular and neurological function. Mainstays of treatment include adherence to a low-fat diet, and supplementation with essential fatty acids and high oral doses of fat soluble vitamins. Prognosis is variable, but early diagnosis and strict adherence to treatment can recover normal neurological function and halt disease progression.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.