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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1998 | 0 | 1 | 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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Regulation of human PRS isoform expression. Adv Exp Med Biol. 1998; 431:215-20.
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The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. J Clin Invest. 1995 Nov; 96(5):2133-41.
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Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity. Adv Exp Med Biol. 1989; 253A:9-13.
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Neurodevelopmental impairment and deranged PRPP and purine nucleotide synthesis in inherited superactivity of PRPP synthetase. Adv Exp Med Biol. 1989; 253A:15-22.
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Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate. Biochim Biophys Acta. 1986 Jun 19; 882(2):168-76.
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Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness. Adv Exp Med Biol. 1986; 195 Pt A:59-66.
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PRPP synthetase superactivity in lymphoblast lines. Adv Exp Med Biol. 1986; 195 Pt A:51-8.
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Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment. Adv Exp Med Biol. 1984; 165 Pt A:91-96.
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Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties. Adv Exp Med Biol. 1980; 122A:387-92.
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Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction. J Clin Invest. 1976 Feb; 57(2):308-18.