Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis

Pediatric Nephrology

Volumn 22, Issue 11, 2007, Pages 1975-1978

  Kersnik Levart, Tanja ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

Dystonia; Hyperechoic renal medullary pyramids; Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency; Lesch Nyhan syndrome; No self mutilation

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID;

ARTICLE; AUTOMUTILATION; CASE REPORT; CEREBRAL PALSY; CHOREOATHETOSIS; CLINICAL FEATURE; DIAGNOSTIC ERROR; DYSTONIA; HUMAN; LESCH NYHAN SYNDROME; MALE; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; OPISTHOTONUS; PRIORITY JOURNAL; SCHOOL CHILD; URIC ACID BLOOD LEVEL;

CEREBRAL PALSY; CHILD; DIAGNOSIS, DIFFERENTIAL; HUMANS; KIDNEY; LESCH-NYHAN SYNDROME; MALE; NEPHROCALCINOSIS; NEPHROLITHIASIS; SELF MUTILATION; URIC ACID;

EID: 34848857600     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-007-0566-3     Document Type: Article

References (11)

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