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pro vyhledávání: '"J. S. Springmann"'
Publikováno v:
European Journal of Pediatrics. 132:93-98
A patient with clearly developed features of the full Lesch-Nyhan syndrome and complete lack of activity of hypoxynthine-phosphoribosyltransferase is described. The clinical picture was characterized by absence of spasticity, good control of autoaggr