Lesch-Nyhan disease in a 20-year- old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy.

Journal of inherited metabolic disease

Volumn 29, Issue 4, 2006, Pages 594-

  Chiong, M A ^a   Marinaki, A ^b   Duley, J ^b   Bennetts, B ^b   Ouvrier, R ^b   Christodoulou, J ^b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; CEREBRAL PALSY; DIAGNOSTIC ERROR; FEMALE; GENERAL ANESTHESIA; GENETICS; HUMAN; INFANT; LESCH NYHAN SYNDROME; MALE; MISSENSE MUTATION; PEDIGREE;

ADULT; ANESTHESIA, GENERAL; CEREBRAL PALSY; DIAGNOSTIC ERRORS; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INFANT; LESCH-NYHAN SYNDROME; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 44649159372     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0281-4     Document Type: Article

References (0)