ReviewOrphanet journal of rare diseases2008
Abetalipoproteinemia: two case reports and literature review.
Review in Orphanet journal of rare diseases, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it, 211 citations in OpenAlex.
- Genetic Variants Shaping Inter-individual Differences in Response to Dietary Intakes-A Narrative Review of the Case of Vitamins.Frontiers in nutrition · 2020Pooled it
- DENND5B disruption results in reduced body fat and increased intestinal fatty acid oxidation by activation of autophagy.Journal of lipid research · 2026Article
- Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.Journal of personalized medicine · 2025Article
- Scientific opinion on the tolerable upper intake level for vitamin E.EFSA journal. European Food Safety Authority · 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
- Emerging therapies for refractory hypercholesterolemia: a narrative review.Future cardiology · 2024Review
- Microsomal triglyceride transfer protein is necessary to maintain lipid homeostasis and retinal function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Human Vitamin E deficiency, and what is and is not Vitamin E?Free radical biology & medicine · 2024Review
- Microsomal triglyceride transfer protein is necessary to maintain lipid homeostasis and retinal function.bioRxiv : the preprint server for biology · 2023Article
- Engineered human hepatocyte organoids enable CRISPR-based target discovery and drug screening for steatosis.Nature biotechnology · 2023Article
- Identification and characterisation of a rareJHEP reports : innovation in hepatology · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia.Movement disorders clinical practice · 2023Article
- Association Between Vitamin Deficiencies and Ophthalmological Conditions.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- Unusual Presentation of Cow's Milk Protein Allergy.JPGN reports · 2022Article
- α-Tocopherol Pharmacokinetics in Adults with Cystic Fibrosis: Benefits of Supplemental Vitamin C Administration.Nutrients · 2022Article
- Treatable Ataxias: How to Find the Needle in the Haystack?Journal of movement disorders · 2022Article
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Current Diagnosis and Management of Abetalipoproteinemia.Journal of atherosclerosis and thrombosis · 2021Review
2 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
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large subunit of microsomal triglyceride transfer protein (MTP; OMIM 157147). To date at least 33 MTP mutations have been identified in 43 ABL patients. We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for prevention of cardiovascular disease, defining the long-term clinical features of patients with a natural deficiency in MTP might provide some insight into the possible effects of such treatments. We review the range of clinical, biochemical and molecular perturbations in ABL.
Indexed as
Identifiers
What OpenQuestion holds
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.