Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present study represents the first effort to assess systematically the cognitive functioning of a population of individuals with Lesch-Nyhan syndrome using standardized psychometric instruments. Seven residents from a special hospital setting participated. They ranged in age from 10 years 1 month to 22 years 3 months (mean 13 years 7 months). Using the Stanford-Binet Intelligence Scale: IV, scores in each of the four domains assessed by this battery (Verbal Reasoning, Abstract/Visual Reasoning, Quantitative and Short-Term Memory), as well as the general composite score, ranged from moderately mentally retarded to low average. Areas of weakness included attention, the manipulation of complex visual images, the comprehension of complex or lengthy speech, mathematical ability, and multi-step reasoning.
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PMID:Cognitive functioning in Lesch-Nyhan syndrome. 928 44