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.
No definition found.
MeSH Number(s)
C16.320.565.798
C18.452.648.798
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 Harvard Catalyst Profiles by year, and whether "Purine-Pyrimidine Metabolism, Inborn Errors" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1995 | 0 | 1 | 1 |
2020 | 1 | 0 | 1 |
Below are the most recent publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in Profiles.
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A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma. J Clin Immunol. 2020 08; 40(6):833-839.
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Development of a rapid clinical TPMT genotyping assay. Clin Biochem. 2014 Oct; 47(15):126-9.
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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J Allergy Clin Immunol. 2014 Jul; 134(1):155-9.
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Corneal manifestations of metabolic diseases. Int Ophthalmol Clin. 1998; 38(1):141-53.
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The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2q22. Cytogenet Cell Genet. 1995; 68(1-2):61-3.
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Hereditary xanthinuria presenting in infancy with nephrolithiasis. J Pediatr. 1986 Aug; 109(2):307-9.
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Asymptomatic xanthinuria detected as a result of routine analysis of serum for urate. Clin Chem. 1985 Mar; 31(3):492.
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New concepts of immunodeficiency. Am J Med. 1981 Oct; 71(4):511-3.
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Hereditary xanthinuria: report on three patients and short review of the literature. Nephron. 1977; 19(6):328-32.
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The physiologic approach to hyperuricemia. N Engl J Med. 1972 Mar 02; 286(9):470-6.