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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...

詳細記述

保存先:
書誌詳細
出版年:Indian J Dermatol
主要な著者: Chandekar, Priyanka, Madke, Bhushan, Kar, Sumit, Yadav, Nidhi
フォーマット: Artigo
言語:Inglês
出版事項: Medknow Publications & Media Pvt Ltd 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4458947/
https://ncbi.nlm.nih.gov/pubmed/26120162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0019-5154.156392
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