New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Orphanet J Rare Dis · 2015 · PMC4320826 · PMID 25612837

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highly significantno p-value reported

Conclusions A highly significant correlation between six metabolites and the HGprt deficiency was established, each of them providing an easily measurable marker of the disease.

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