"Abetalipoproteinemia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
| Descriptor ID |
D000012
|
| MeSH Number(s) |
C16.320.565.398.500.440.500 C18.452.584.500.875.440.500 C18.452.648.398.500.440.500
|
| Concept/Terms |
Abetalipoproteinemia- Abetalipoproteinemia
- Bassen-Kornzweig Disease
- Bassen Kornzweig Disease
- Microsomal Triglyceride Transfer Protein Deficiency Disease
- Betalipoprotein Deficiency Disease
- Betalipoprotein Deficiency Diseases
- Deficiency Disease, Betalipoprotein
- Deficiency Diseases, Betalipoprotein
- Disease, Betalipoprotein Deficiency
- Diseases, Betalipoprotein Deficiency
- Microsomal Triglyceride Transfer Protein Deficiency
- Acanthocytosis
- Acanthocytoses
- Bassen-Kornzweig Syndrome
- Bassen Kornzweig Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Abetalipoproteinemia".
Below are MeSH descriptors whose meaning is more specific than "Abetalipoproteinemia".
This graph shows the total number of publications written about "Abetalipoproteinemia" by people in this website by year, and whether "Abetalipoproteinemia" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 0 | 1 |
| 2004 | 1 | 1 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 0 | 1 | 1 |
| 2008 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2011 | 3 | 0 | 3 |
| 2012 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2015 | 2 | 0 | 2 |
| 2016 | 1 | 1 | 2 |
| 2017 | 0 | 2 | 2 |
| 2018 | 4 | 0 | 4 |
| 2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Abetalipoproteinemia" by people in Profiles.
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Photoinactivation of Neisseria gonorrhoeae: A Paradigm-Changing Approach for Combating Antibiotic-Resistant Gonococcal Infection. J Infect Dis. 2019 07 31; 220(5):873-881.
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Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families. J Clin Lipidol. 2019 Jan - Feb; 13(1):201-212.
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Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. J Lipid Res. 2018 09; 59(9):1640-1648.
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Acanthocytosis in progressive childhood dystonia. Neurol India. 2018 Jul-Aug; 66(4):1204-1206.
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New pathogenic mutation of chorea-acanthocytosis. Neurologia (Engl Ed). 2020 Mar; 35(2):73-74.
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Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease. Tremor Other Hyperkinet Mov (N Y). 2017; 7:512.
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Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress. Cell Rep. 2017 05 16; 19(7):1456-1466.
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Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. Indian J Gastroenterol. 2016 May; 35(3):236-41.
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Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. Atherosclerosis. 2016 07; 250:52-6.
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Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal ß-Barrel in Microsomal Triglyceride Transfer Protein Function. Circ Cardiovasc Genet. 2015 Oct; 8(5):677-87.