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10.1007/s13730-016-0216-3 http://scihub22266oqcxt.onion/10.1007/s13730-016-0216-3 C5413754!5413754!28508967     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       CEN+Case+Rep 2016 ; 5 (2): 158-62 Nephropedia Template TP {{tp|p=28508967|t=2016. A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase |pdf=|usr=}}{{28508967}} gab.com Text A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase JO: CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28508967 #FOAvip Hereditary hypouricemia is generally caused by renal hypouricemia, an autosomal recessive disorder that is characterized by impaired renal tubular uric acid transport, or by xanthinuria, a rare autosomal recessive disorder caused by a deficiency of xanthine dehydrogenase (XDH; xanthinuria type I) or by a deficiency of both XDH and aldehyde oxidase (xanthinuria type II). In contrast to renal hypouricemia, which sometimes leads to exercise-induced acute kidney injury (EIAKI), xanthinuria has not been associated with this disorder. We report here a case of xanthinuria type I due to a compound heterozygous mutation. A 46-year-old woman was found to have undetectable plasma and urinary levels of uric acid. She had no symptoms and no history of EIAKI. Xanthinuria type I was diagnosed following the allopurinol loading test. Mutation analysis revealed a compound heterozygous mutation [c.305A>G (p.Gln102Arg) and c.2567delC (p.Thr856Lysfs*73)] in the XDH gene. Of these two mutations, the former is novel. The patient did not exhibit EIAKI. However, because xanthinuria is a rare disease, the identification of additional cases is necessary to determine whether this disease is complicated with EIAKI. Twit Text FOAVip A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase ????CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28508967 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28508967 #FOAvip English Wikipedia <ref>{{Cite pmid|28508967}}</ref> A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase #MMPMID28508967 Iguchi A; Sato T; Yamazaki M; Tasaki K; Suzuki Y; Iino N; Hasegawa H; Ichida K; Narita I CEN Case Rep 2016[Nov]; 5 (2): 158-62 PMID28508967show ga Hereditary hypouricemia is generally caused by renal hypouricemia, an autosomal recessive disorder that is characterized by impaired renal tubular uric acid transport, or by xanthinuria, a rare autosomal recessive disorder caused by a deficiency of xanthine dehydrogenase (XDH; xanthinuria type I) or by a deficiency of both XDH and aldehyde oxidase (xanthinuria type II). In contrast to renal hypouricemia, which sometimes leads to exercise-induced acute kidney injury (EIAKI), xanthinuria has not been associated with this disorder. We report here a case of xanthinuria type I due to a compound heterozygous mutation. A 46-year-old woman was found to have undetectable plasma and urinary levels of uric acid. She had no symptoms and no history of EIAKI. Xanthinuria type I was diagnosed following the allopurinol loading test. Mutation analysis revealed a compound heterozygous mutation [c.305A>G (p.Gln102Arg) and c.2567delC (p.Thr856Lysfs*73)] in the XDH gene. Of these two mutations, the former is novel. The patient did not exhibit EIAKI. However, because xanthinuria is a rare disease, the identification of additional cases is necessary to determine whether this disease is complicated with EIAKI. äA case of xanthinuria type I with a novel mutation in xanthine dehydro(epmc).pdf DeepDyve Pubget Overpricing