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The Motor Disorder of Classic Lesch‐Nyhan Disease

✍ Scribed by Visser, Jasper E.; Harris, James C.; Barabas, Gabor; Eddey, Gary E.; Jinnah, H. A.


Book ID
126666881
Publisher
Taylor and Francis Group
Year
2004
Tongue
English
Weight
143 KB
Volume
23
Category
Article
ISSN
0732-8311

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## Abstract The Lesch–Nyhan syndrome is an X‐linked recessive disorder caused by a deficiency in hypoxanthine–guanine phosphoribosyl transferase, a purine salvage enzyme. Affected individuals exhibit a characteristic neurobehavioral disorder with delayed acquisition of motor skills, dystonia, sever