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Results 1 - 2 of 2 for "Hypoxanthine-guanine" phosphoribosyltransferase deficiency
  1. Lesch-Nyhan syndrome 
    ... Choreoathetosis self-mutilation syndrome Complete HPRT deficiency Complete hypoxanthine-guanine phosphoribosyltransferase deficiency Deficiency of guanine phosphoribosyltransferase Deficiency of hypoxanthine phosphoribosyltransferase ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  2. HPRT1 gene 
    ... Buno AS, O'Neill P. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 ...
    https://medlineplus.gov/genetics/gene/hprt1 - Genetics