Medical diagnosis, management and treatment of Lesch Nyhan disease

被引:3
作者
McCarthy, G [1 ]
机构
[1] Chailey Heritage Clin Serv, Chailey BN8 4JN, E Sussex, England
关键词
Lesch Nyhan disease; diagnosis; management; treatment;
D O I
10.1081/NCN-200027395
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The aim of this presentation is to inform about Lesch Nyhan Disease from the point of view of the affected boys and their families living with the condition from day to day and also to show the importance of research in treating and managing the disease (In Caring for Children with Lesch Nyhan Disease-A Guide for Parents and Professionals; McCarthy, G.T., Ed.; PUMPA and Chailey Heritage Clinical Services: East Sussex, UK, 2002).
引用
收藏
页码:1147 / 1152
页数:6
相关论文
共 6 条
[1]  
Harris J. C., 1996, Society for Neuroscience Abstracts, V22, P265
[2]   Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome [J].
Harris, JC ;
Lee, RR ;
Jinnah, HA ;
Wong, DF ;
Yaster, M ;
Bryan, RN .
ARCHIVES OF NEUROLOGY, 1998, 55 (04) :547-553
[3]  
HARRIS JC, 1999, NEUR ANN M PUMPA CHA
[4]   Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease [J].
Robey, KL ;
Reek, JF ;
Giacomini, KD ;
Barabas, G ;
Eddey, GE .
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2003, 45 (03) :167-171
[5]   Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency [J].
Schretlen, DJ ;
Harris, JC ;
Park, KS ;
Jinnah, HA ;
Del Pozo, NO .
JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY, 2001, 7 (07) :805-812
[6]   LESCH-NYHAN SYNDROME - GROWTH DELAY, TESTICULAR ATROPHY AND A PARTIAL FAILURE OF THE 11-BETA-HYDROXYLATION OF STEROIDS [J].
WATTS, RWE ;
HARKNESS, RA ;
SPELLACY, E ;
TAYLOR, NF .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (03) :210-223