 Amino Acid Metabolism, Inborn Errors
"Amino Acid 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.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
| Descriptor ID |
D000592
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| MeSH Number(s) |
C16.320.565.100 C18.452.648.100
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| Concept/Terms |
Amino Acid Metabolism, Inborn Errors- Amino Acid Metabolism, Inborn Errors
- Amino Acidopathies, Congenital
- Amino Acidopathy, Congenital
- Congenital Amino Acidopathy
- Inborn Errors, Amino Acid Metabolism
- Amino Acidopathies, Inborn
- Amino Acidopathy, Inborn
- Inborn Amino Acidopathies
- Inborn Amino Acidopathy
- Congenital Amino Acidopathies
- Amino Acid Metabolism, Inborn Error
- Amino Acid Metabolism Disorders, Inborn
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Below are MeSH descriptors whose meaning is more general than "Amino Acid Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Amino Acid Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Amino Acid Metabolism, Inborn Errors" by people in UAMS Profiles by year, and whether "Amino Acid 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 |
|---|
| 2020 | 1 | 0 | 1 | | 2015 | 2 | 0 | 2 | | 2008 | 1 | 0 | 1 | | 2003 | 0 | 1 | 1 | | 1999 | 0 | 1 | 1 | | 1998 | 1 | 0 | 1 | | 1995 | 1 | 0 | 1 | | 1994 | 1 | 1 | 2 | | 1993 | 1 | 0 | 1 | | 1989 | 2 | 0 | 2 |
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Below are the most recent publications written about "Amino Acid Metabolism, Inborn Errors" by people in Profiles over the past ten years.
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Khedr M, Cooper MS, Hughes AT, Milan AM, Davison AS, Norman BP, Sutherland H, Jarvis JC, Fitzgerald R, Markinson L, Psarelli EE, Ghane P, Deutz NEP, Gallagher JA, Ranganath LR. Nitisinone causes acquired tyrosinosis in alkaptonuria. J Inherit Metab Dis. 2020 09; 43(5):1014-1023.
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Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec; 116(4):252-9.
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Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med. 2016 Feb; 18(2):162-7.
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