 Purine-Pyrimidine Metabolism, Inborn Errors
"Purine-Pyrimidine 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.
Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
| Descriptor ID |
D011686
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| MeSH Number(s) |
C16.320.565.798 C18.452.648.798
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Purine-Pyrimidine Metabolism, Inborn Errors".
Below are MeSH descriptors whose meaning is more specific than "Purine-Pyrimidine Metabolism, Inborn Errors".
This graph shows the total number of publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in this website by year, and whether "Purine-Pyrimidine 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 |
|---|
| 1998 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in Profiles.
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Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis. 2017 05; 40(3):423-431.
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Ray SP, Duval N, Wilkinson TG, Shaheen SE, Ghosh K, Patterson D. Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. Biochim Biophys Acta. 2013 Aug; 1834(8):1545-53.
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Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet. 1998 Oct; 63(4):1049-59.
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