Avtor/Urednik     Kersnik-Levart, Tanja
Naslov     Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis
Tip     članek
Vol. in št.     Letnik 22, št. 11
Leto izdaje     2007
Obseg     str. 1975-1978
ISSN     0931-041X - Pediatric nephrology (Berlin, Germany)
Jezik     eng
Proste vsebinske oznake     Lesch-Nyhan syndrome
hypoxanthine-guanine-phosphoribosyl transferase (HPRT) deficiency
dystonia
no self-mutilation
hyperechoic renal medullary pyramids