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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Autors principals: Priyanka Chandekar (Autor), Bhushan Madke (Autor), Sumit Kar (Autor), Nidhi Yadav (Autor)
Format: Llibre
Publicat: Wolters Kluwer Medknow Publications, 2015-01-01T00:00:00Z.
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