Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00735419
Reference13 articles.
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2. de Bruyn CHMM (1976) Hypoxanthine-guanine phosphoribosyltransferase deficiency.Hum Genet 31: 127?150.
3. Edwards NL, Recker D, Fox IH (1979) Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.J Clin Invest 63: 922?930.
4. Emmerson BT, Thompson L (1973) The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency.Q J Med 42: 423?440.
5. Hatanaka T, Higashino H, Woo M et al (1990) Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex.Acta Neurol Scand 81: 184?187.
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