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 |
|---|
| 1998 | 1 | 0 | 1 |
| 2009 | 2 | 0 | 2 |
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2015 | 3 | 0 | 3 |
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Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles.
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Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia. Mol Genet Metab. 2020 01; 129(1):20-25.
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Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec; 56(12):1406-1413.
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Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2.
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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.
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Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. Nutr Clin Pract. 2015 Aug; 30(4):502-10.
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Genetics of familial hypercholesterolemia. Curr Atheroscler Rep. 2015 Apr; 17(4):491.
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Transient central diabetes insipidus induced by ketamine infusion. Ann Pharmacother. 2014 Dec; 48(12):1642-5.
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Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011 Jul; 155A(7):1597-604.
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Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J Perinatol. 2010 Aug; 30(8):558-62.
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Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. Muscle Nerve. 2009 Mar; 39(3):374-82.