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 |
|---|
| 2016 | 1 | 0 | 1 |
| 2017 | 4 | 0 | 4 |
| 2018 | 1 | 0 | 1 |
| 2019 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 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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CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY. Retin Cases Brief Rep. 2022 Jan 01; 16(1):99-101.
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[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10; 36(4):310-313.
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[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP]. Zhongguo Dang Dai Er Ke Za Zhi. 2019 Jan; 21(1):52-57.
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Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome. Med Arch. 2018 06; 72(3):234-236.
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First report of Mediterranean stomatocytosis/macrothrombocytopenia in an Indian family: a diagnostic dilemma. Pathology. 2017 Dec; 49(7):811-815.
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Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure. J Pediatr Gastroenterol Nutr. 2017 06; 64(6):869-875.
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Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus. J Inherit Metab Dis. 2018 01; 41(1):49-57.
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Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement. Neuromuscul Disord. 2017 May; 27(5):481-486.
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. Atherosclerosis. 2017 07; 262:146-153.