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Molecular, biochemical, and genetic characterization of a female patient with Lesch–Nyhan disease

✍ Scribed by Choni Rinat; Esther Zoref-Shani; Ziva Ben-Neriah; Yael Bromberg; Rachel Becker-Cohen; Sofia Feinstein; Oded Sperling; Yaacov Frishberg

Book ID
116987759
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
261 KB
Volume
87
Category
Article
ISSN
1096-7192

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## Abstract Lesch‐Nyhan disease (LND) is a hereditary disorder of purine metabolism causing severe neurobehavioral disturbances in which an abnormal central nervous system dopaminergic function has been implied. However, levodopa treatment has rarely been used, and reports describe heterogeneous re