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- W1503711541 abstract "This paper describes an adult patient, with gout and without any demonstrable activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HG-PRT). Few of the neurological abnormalities generally associated with severe HG-PRT deficiency were exhibited by this patient. Psychological studies, however, disclosed that some characteristics of the behaviour anomaly in the Lesch-Nyhan syndrome are present, but only in a concealed form." @default.
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- W1503711541 date "2008-04-23" @default.
- W1503711541 modified "2023-09-27" @default.
- W1503711541 title "An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)" @default.
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- W1503711541 doi "https://doi.org/10.1111/j.1399-0004.1973.tb01930.x" @default.
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