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Two of the patients had the fully developed Lesch\u2010Nyhan syndrome and although they had undetectable HPRT activity, small amounts of CRM were found. HPRT\u2010specific mRNA was not detected in lymphoblast lysates from one of these patients, while lysates from the other had a much reduced concentration. Samples from three patients with &lt;0.1% of normal HPRT activity but with minor or no neurological manifestations were also found to contain small amounts of CRM. The other four patients whose HPRT activities ranged from 3 to 10% of normal were found to have CRM concentrations which varied from 26 to 100% of normal. In one patient with a partial deficiency the<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for 5\u2010phospho\u2010\u03b1\u2010<jats:sc>d<\/jats:sc>\u2010ribosyl\u20101\u2010pyrophosphate was five times normal.<\/jats:p>","DOI":"10.1007\/bf01800364","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:04:24Z","timestamp":1119373464000},"page":"229-238","source":"Crossref","is-referenced-by-count":12,"title":["Biochemical basis of hypoxanthine\u2010guanine phosphoribosyltransferase deficiency in nine families"],"prefix":"10.1002","volume":"11","author":[{"given":"D. T.","family":"Keough","sequence":"first","affiliation":[{"name":"Department of Medicine University of Queensland, Princess Alexandra Hospital  Woolloongabba 4102"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. B.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Queensland, Princess Alexandra Hospital  Woolloongabba 4102"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"de Jersey","sequence":"additional","affiliation":[{"name":"Department of Biochemistry University of Queensland  St. Lucia 4067 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. T.","family":"Emmerson","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Queensland, Princess Alexandra Hospital  Woolloongabba 4102"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1987,10,28]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.1984.tb03788.x"},{"key":"e_1_2_1_3_1","first-page":"423","article-title":"The spectrum of hypoxanthine\u2010guanine phosphoribosyltransferase deficiency","volume":"42","author":"Emmerson B. T.","year":"1973","journal-title":"Q. J. Med."},{"key":"e_1_2_1_4_1","first-page":"49","article-title":"Urate kinetics in hypoxanthine\u2010guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout","volume":"177","author":"Emmerson B. T.","year":"1976","journal-title":"Q. J. 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