Author/Editor     Kersnik-Levart, Tanja
Title     Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis
Type     članek
Vol. and No.     Letnik 22, št. 11
Publication year     2007
Volume     str. 1975-1978
ISSN     0931-041X - Pediatric nephrology (Berlin, Germany)
Language     eng
Keywords     Lesch-Nyhan syndrome
hypoxanthine-guanine-phosphoribosyl transferase (HPRT) deficiency
dystonia
no self-mutilation
hyperechoic renal medullary pyramids