Title of article
HPRT Deficiency in a Two-Month-Old Child Presenting Acute Renal Failure and Gout with a New Deletion of Two Bases in Exon 3 of the HPRT Gene
Author/Authors
Zamora، نويسنده , , Alfonso and Escلrcega، نويسنده , , Ricardo O. and Vazquez، نويسنده , , Rodrigo and Zamora، نويسنده , , Antonio and OʹNeill، نويسنده , , J. Patrick، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2007
Pages
3
From page
460
To page
462
Abstract
We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269–270delAT).
Keywords
Hyperuricemia , HPRT deficiency , LESCH-NYHAN
Journal title
Archives of Medical Research
Serial Year
2007
Journal title
Archives of Medical Research
Record number
1796237
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