Lesch-nyhan syndrome in an Indian child

Lesch-nyhan syndrome in an Indian child

Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation. Hereby, we report a case of LNS in a three and half-year-old male child, who presented with characteristic self-mutilating behavior. He had history of...

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Bibliographic Details
Main Authors: Priyanka Chandekar, Bhushan Madke, Sumit Kar, Nidhi Yadav
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2015-01-01
Series:Indian Journal of Dermatology
Subjects:
Hypoxanthine guanine phosphoribosyl transferase deficiency
hyperuricemia
Lesch-Nyhan syndrome
self-mutilation
uric acid metabolism.
Online Access:http://www.e-ijd.org/article.asp?issn=0019-5154;year=2015;volume=60;issue=3;spage=298;epage=300;aulast=

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http://www.e-ijd.org/article.asp?issn=0019-5154;year=2015;volume=60;issue=3;spage=298;epage=300;aulast=

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