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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...

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Detalles Bibliográficos
Autores principales: Chandekar, Priyanka, Madke, Bhushan, Kar, Sumit, Yadav, Nidhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458947/
https://www.ncbi.nlm.nih.gov/pubmed/26120162
http://dx.doi.org/10.4103/0019-5154.156392