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.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 |
| 2017 | 5 | 2 | 7 |
| 2018 | 2 | 3 | 5 |
| 2019 | 2 | 1 | 3 |
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Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis. QJM. 2021 11 05; 114(8):596-597.
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Infection-induced inflammation from specific inborn errors of immunity to COVID-19. FEBS J. 2021 09; 288(17):5021-5041.
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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. Mol Genet Metab. 2020 11; 131(3):285-288.
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Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy. Genet Med. 2020 07; 22(7):1178-1180.
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Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan. J Pediatr. 2019 11; 214:151-157.e6.
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Failure to validate association of mannose-binding lectin deficiency with adverse neurodevelopmental outcomes after cardiac surgery in infants. J Thorac Cardiovasc Surg. 2019 Jun; 157(6):e397-e398.
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Transplant-free Survival in Chronic Liver Disease Presenting as Acute Liver Failure in Childhood. Transplantation. 2019 03; 103(3):544-551.
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Unexplained encephalopathy with phenytoin toxicity - hyperammonemia, the underlying cause. Neurol India. 2018 Nov-Dec; 66(6):1829-1831.
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Frequencies of poor metabolizer alleles of 12 pharmacogenomic actionable genes in Punjabi Sikhs of Indian Origin. Sci Rep. 2018 10 24; 8(1):15742.
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Myeloperoxidase deficiency attenuates systemic and dietary iron-induced adverse effects. J Nutr Biochem. 2018 12; 62:28-34.