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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...
Autores principales: | Chandekar, Priyanka, Madke, Bhushan, Kar, Sumit, Yadav, Nidhi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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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 |
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