 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
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| MeSH Number(s) |
C16.320.565.398 C18.452.584.562 C18.452.648.398
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| 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 |
|---|
| 1995 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 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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Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. 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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Foster LA, Courville EL, Manousakis G. Clinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy. Neurology. 2016 08 23; 87(8):e74-8.
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Chatfield KC, Coughlin CR, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar; 21:1-10.
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McCandless SE, Chandrasekar R, Linard S, Kikano S, Rice L. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency. Mol Genet Metab. 2013 Jan; 108(1):51-5.
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Dykema DM. Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants. Adv Neonatal Care. 2012 Feb; 12(1):23-7.
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Coughlin CR, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S129-31.
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Doan ML, Elidemir O, Dishop MK, Zhang H, Smith EO, Black PG, Deterding RR, Roberts DM, Al-Salmi QA, Fan LL. Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism. Thorax. 2009 Aug; 64(8):677-81.
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Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ. Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem. 2000 Feb; 46(2):149-55.
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Odaib AA, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, Suchy FJ, Rinaldo P. A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med. 1998 Dec 10; 339(24):1752-7.
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Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995 Jul; 127(1):82-7.
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