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
|
| MeSH Number(s) |
C16.320.565 C18.452.648
|
| 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
|
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
- 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 this website by year, and whether "Metabolism, Inborn Errors" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 1999 | 0 | 1 | 1 |
| 2000 | 2 | 0 | 2 |
| 2001 | 1 | 0 | 1 |
| 2002 | 2 | 1 | 3 |
| 2003 | 1 | 1 | 2 |
| 2004 | 0 | 1 | 1 |
| 2005 | 1 | 1 | 2 |
| 2007 | 1 | 2 | 3 |
| 2008 | 3 | 0 | 3 |
| 2011 | 1 | 1 | 2 |
| 2012 | 2 | 0 | 2 |
| 2014 | 2 | 0 | 2 |
| 2015 | 3 | 0 | 3 |
| 2016 | 3 | 0 | 3 |
| 2017 | 2 | 1 | 3 |
| 2018 | 2 | 0 | 2 |
| 2019 | 3 | 1 | 4 |
| 2020 | 2 | 1 | 3 |
| 2021 | 5 | 2 | 7 |
| 2022 | 3 | 1 | 4 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Structural basis of impaired disaggregase function in the oxidation-sensitive SKD3 mutant causing 3-methylglutaconic aciduria. Nat Commun. 2023 04 11; 14(1):2028.
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Advancements in therapeutics for inborn errors of metabolism. Curr Opin Pediatr. 2022 12 01; 34(6):559-564.
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Constitutive loss of DNMT3A causes morbid obesity through misregulation of adipogenesis. Elife. 2022 05 30; 11.
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Inhibition of the Sec61 translocon overcomes cytokine-induced glucocorticoid resistance in T-cell acute lymphoblastic leukaemia. Br J Haematol. 2022 07; 198(1):137-141.
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Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism. J Pediatr. 2022 07; 246:116-122.e1.
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Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management. Clin Chem. 2021 11 26; 67(12):1606-1617.
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Inborn errors of immunity: Recent progress. J Allergy Clin Immunol. 2021 12; 148(6):1442-1450.
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Clinical metabolomics for inborn errors of metabolism. Adv Clin Chem. 2022; 107:79-138.
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Interconnections between circadian clocks and metabolism. J Clin Invest. 2021 08 02; 131(15).
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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.