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Article

Hereditary disorders of purine and pyrimidine metabolism: identification of their biochemical phenotypes in the clinical laboratory.

Mayo Clinic proceedings - 1 Aug 1997

Valik D, Jones J D

Abstract excerpt

OBJECTIVE: To describe a laboratory approach to the diagnosis of hereditary diseases of purine and pyrimidine metabolism and emphasize clinical situations in which these disorders should be considered in the differential diagnosis. DESIGN: Disease-specific patterns were identified in random specimens of ultrafiltered urine by using gradient high-performance liquid chromatography with diode-array detection, and...

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PMID: 9276598
DOI: 10.1016/S0025-6196(11)63590-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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