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http://dx.doi.org/10.1136/ard.25.2.117DOI Listing

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Article Synopsis
  • Lesch-Nyhan syndrome (LNS) is a rare genetic disorder caused by HPRT deficiency, and early diagnosis is key to effective management.
  • Three Taiwanese patients were studied to highlight early clinical signs like hyperuricemia and developmental delays, with exome sequencing confirming diagnoses.
  • Findings showed common symptoms in all patients, and early genetic testing could lead to better outcomes by identifying the syndrome before severe manifestations develop.
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