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- W2066843094 abstract "Lesch–Nyhan syndrome is an inborn error of purine metabolism characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behavior, associated with complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity." @default.
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- W2066843094 date "2013-01-01" @default.
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- W2066843094 title "Lesch–Nyhan Syndrome" @default.
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- W2066843094 doi "https://doi.org/10.1016/b978-0-12-374984-0.00856-1" @default.
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