 Metabolism, Inborn Errors
"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 metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Descriptor ID |
D008661
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| MeSH Number(s) |
C16.320.565 C18.452.648
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| Concept/Terms |
Metabolism, Inborn Errors- Metabolism, Inborn Errors
- Errors Metabolism, Inborn
- Errors Metabolisms, Inborn
- Inborn Errors Metabolism
- Inborn Errors Metabolisms
- Metabolisms, Inborn Errors
- Metabolism Errors, Inborn
- Error, Inborn Metabolism
- Errors, Inborn Metabolism
- Inborn Metabolism Error
- Inborn Metabolism Errors
- Metabolism Error, Inborn
- Inborn Errors of Metabolism
- Metabolism Inborn Error
- Metabolism Inborn Errors
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Below are MeSH descriptors whose meaning is more general than "Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Metabolism, Inborn Errors".
- Metabolism, Inborn Errors
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Transport Disorders, Inborn
- Amyloidosis, Familial
- Brain Diseases, Metabolic, Inborn
- Carbohydrate Metabolism, Inborn Errors
- Cytochrome-c Oxidase Deficiency
- Hyperbilirubinemia, Hereditary
- Lipid Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Metal Metabolism, Inborn Errors
- Peroxisomal Disorders
- Porphyrias
- Progeria
- Purine-Pyrimidine Metabolism, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Steroid Metabolism, Inborn Errors
This graph shows the total number of publications written about "Metabolism, Inborn Errors" by people in UAMS Profiles by year, and whether "Metabolism, Inborn Errors" 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 |
|---|
| 2018 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2011 | 1 | 1 | 2 | | 2007 | 1 | 0 | 1 | | 2006 | 2 | 1 | 3 | | 2004 | 0 | 1 | 1 | | 2003 | 1 | 0 | 1 | | 2002 | 2 | 0 | 2 | | 1998 | 1 | 0 | 1 | | 1996 | 1 | 0 | 1 | | 1990 | 1 | 0 | 1 |
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Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles over the past ten years.
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Wortmann SB, Zietkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mr?z D, Wyszkowski H, Weis D, Hannibal I, von St?lpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet Med. 2021 09; 23(9):1705-1714.
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Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG. Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency. Neurology. 2018 09 11; 91(11):e1077-e1082.
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McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH. Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation. J Inherit Metab Dis. 2016 05; 39(3):399-408.
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