Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.
Alessio CremonesiDavid MeiliAnahita RassiMartin PomsBarbara TavazziVáclava ŠkopováJohannes HäberleMarie ZikánováMartin HersbergerPublished in: Clinical chemistry and laboratory medicine (2023)
The presented method and reference intervals enable the quantification of 41 metabolites and the potential diagnosis of up to 25 disorders of PuPy metabolism.
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