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- W2008719539 abstract "We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT)." @default.
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- W2008719539 date "2007-05-01" @default.
- W2008719539 modified "2023-09-27" @default.
- W2008719539 title "HPRT Deficiency in a Two-Month-Old Child Presenting Acute Renal Failure and Gout with a New Deletion of Two Bases in Exon 3 of the HPRT Gene" @default.
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- W2008719539 doi "https://doi.org/10.1016/j.arcmed.2006.10.015" @default.
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