BT Emmerson, CJ Thompson, DC Wallace - Annals of Internal Medicine, 1972 - Am Coll Physicians Heterozygotes for hypoxanthine-guanine phosphoribosyltransferase (HGPRTase)
deficiency, although they demonstrate HGPRTase positive and negative cells on
fibroblast culture, generally have normal activities of HGPRTase in ... Cited by 24 - Related articles - All 2 versions
BT Emmerson, RB Gordon, LA Johnson - QJM, 1976 - Oxford Univ Press Page 1. Quarterly Journal of Medicine, New Series, XLV, No. 177, pp. 49-61, January
1976 Urate Kinetics in Hypoxanthine-Guanine Phosphoribosyltransferase ... Cited by 13 - Related articles - All 3 versions
BT Emmerson, JB Wyngaarden - Science, 1969 - sciencemag.org The urate pool and daily turnover of urate, together with the rate of
incorporation of glycine into urate, were measured in three asymptomatic mothers
who had sons with various degrees of deficiency of hypoxanthine-guanine ... Cited by 26 - Related articles - All 3 versions
B Bakay, WL Nyhan, N Fawcett, MD Kogut - Biochemical Genetics, 1972 - Springer The isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC
2.4.2.8) were studied by polyaerylamide gel disc electrophoresis in the
erythrocytes of a family in which there was a partial deficiency of this X- ... Cited by 16 - Related articles - All 2 versions
- ►nih.gov [PDF] J Dancis, LC Yip, RP Cox, S Piomelli, ME … - Journal of Clinical Investigation, 1973 - pubmedcentral.nih.gov AB S TRACT Afamily is reported in which each of two sisters has a son with no
detectable hypoxanthine phosphoribosyltransferase (HPRT) (EC 2. 4. 2. 8) in his
erythrocytes, a finding considered pathognomonic of Lesch-Nyhan disease. ... Cited by 20 - Related articles - All 4 versions
- ►nih.gov [PDF] IH Fox, IL Dwosh, PJ Marchant, S Lacroix, … - Journal of Clinical Investigation, 1975 - pubmedcentral.nih.gov ABSTRA CT The mutation in a young gouty male with a partial deficiency of
hypoxanthine-guanine phos- phoribosyltransferase has been evaluated. The serum
uric acid was 11.8 mg/100 ml, and the urinary uric acid excretion was 1,279 ... Cited by 22 - Related articles - All 6 versions
W Gutensohn, H Jahn - Eur. J. Clin. Invest, 1979 - interscience.wiley.com Abstract. A mutant hypoxanthine-phosphoribosyltransferase (EC 2.4.2.8) from a
patient with gout is examined. The activity of the erythrocyte enzyme is about
5% of normal in this case. Immunoprecipitation studies using antiserum ... Cited by 13 - Related articles - All 2 versions
