Lipid Metabolism, Inborn Errors
"Lipid Metabolism, Inborn Errors" 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.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
| Descriptor ID |
D008052
|
| MeSH Number(s) |
C16.320.565.398 C18.452.584.562 C18.452.648.398
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Lipid Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Lipid Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Lipid Metabolism, Inborn Errors" by people in this website by year, and whether "Lipid Metabolism, Inborn Errors" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1993 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles.
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Pancreatic Malnutrition in Children. Pediatr Ann. 2019 Nov 01; 48(11):e441-e447.
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The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128.
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A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. Arch Neurol. 2012 Sep; 69(9):1190-2.
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A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun. 1993 Mar 31; 191(3):1369-72.
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The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis. Biochim Biophys Acta. 1992 Jul 17; 1101(2):206-9.
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Defect in fatty acid oxidation: laboratory and pathologic findings in a patient. Pediatr Neurol. 1991 Mar-Apr; 7(2):125-30.
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Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: effects of incubation with lecithin: cholesterol acyltransferase in vitro. Scand J Clin Lab Invest Suppl. 1975; 142:31-55.