← Back to Conditions
Disorder of purine and pyrimidine metabolism
disorderSNOMED 238006008CUI C0034139
Overview
Disorder of purine and pyrimidine metabolism is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Research Evidence
Peer-reviewed studies linked via MeSH term "Purine-Pyrimidine Metabolism, Inborn Errors" from the MEDLINE/PubMed database.
Sort:
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
[object Object], [object Object], [object Object] et al. · Epilepsia Open · 2024
Impact of NUDT15 polymorphisms on thiopurines-induced myelotoxicity and thiopurines tolerance dose.
[object Object], [object Object], [object Object] et al. · Oncotarget · 2017
Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy.
[object Object], [object Object], [object Object] et al. · Pharmacogenomics J · 2016
Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease.
[object Object], [object Object], [object Object] et al. · J Crohns Colitis · 2017
PMID: 27402913RCT
Neurological presentations of inborn errors of purine and pyrimidine metabolism.
[object Object], [object Object], [object Object] · Eur J Paediatr Neurol · 2024
PMID: 38056117Review
Disorders of purine biosynthesis metabolism.
[object Object], [object Object], [object Object] · Mol Genet Metab · 2022
PMID: 34998670Review
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.
[object Object], [object Object] · Mol Genet Metab · 2022
PMID: 35216884Review
Reducing risk in thiopurine therapy.
[object Object], [object Object] · Xenobiotica · 2020
PMID: 31682552Review
Thiopurine S-Methyltransferase as a Pharmacogenetic Biomarker: Significance of Testing and Review of Major Methods.
[object Object], [object Object], [object Object] · Cardiovasc Hematol Agents Med Chem · 2017
Mitochondrial purine and pyrimidine metabolism and beyond.
[object Object] · Nucleosides Nucleotides Nucleic Acids · 2016
PMID: 27906631Review
Search all PubMed articles for Disorder of purine and pyrimidine metabolism
Research data from MEDLINE/PubMed
Related Conditions
Uridine monophosphate hydrolase deficiency(child)
Cytosine diphosphate choline phosphotransferase deficiency(child)
Deficiency of hypoxanthine oxidase(child)
Disorder of purine metabolism(child)
Hereditary orotic aciduria, type 1(child)
Hereditary orotic aciduria, type 2(child)
Xanthinuria(child)
Metabolic disease(parent)
Quick Facts
- SNOMED CT
- 238006008
- UMLS CUI
- C0034139
- Fully Specified Name
- Disorder of purine and pyrimidine metabolism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.