Petra Vyskocilová

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BACKGROUND Only three inherited metabolic defects have been identified in purine de novo synthesis (PDNS). We present here CE methods for diagnosing defects in the second half of PDNS (from sixth to(More)
Two inherited deficiencies have been described in purine de novo synthesis pathway. Both the defects are diagnosed by detecting ribosides--dephosphorylated substrates of the enzymes--in patient's(More)
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