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10.1007/s13730-013-0069-y http://scihub22266oqcxt.onion/10.1007/s13730-013-0069-y C5413657!5413657!28509303     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       CEN+Case+Rep 2013 ; 2 (2): 228-33 Nephropedia Template TP {{tp|p=28509303|t=2013. A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy |pdf=|usr=}}{{28509303}} gab.com Text A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy JO: CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28509303 #FOAvip Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disorder that is characterized by hyperuricemia and chronic renal failure and results in end-stage renal failure. FJHN is caused by mutations in the UMOD gene, which encodes uromodulin. Uromodulin contains three epidermal growth factor (EGF)-like domains, a domain of eight cysteine residues (D8C), and a zona pellucid-like domain. Over 90 % of UMOD mutations are missense mutations, and over 80 % exist in exon 4, which encodes both D8C and the EGF-like domains. A 56-year-old woman was diagnosed with hyperuricemia with a serum uric acid level of 7.5 mg/dL, and stage III chronic kidney disease (CKD) with a serum creatinine level of 1.12 mg/dL and an estimated glomerular filtration rate of 39.9 mL/(min 1.73 m2). The patient had a family history of hyperuricemia and stage IV CKD; both the patient and her affected family members had a novel mutation in the UMOD gene: c.C518G (p.P173R), located between the EGF-like domains and D8C. This mutation, along with previously reported nearby mutations, causes a clinically mild phenotype of FJHN. It is important that physicians consider the diagnosis of FJHN in patients with a family history of hyperuricemia associated with renal dysfunction, even if the patient has only mild renal impairment. Twit Text FOAVip A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy ????CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28509303 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28509303 #FOAvip English Wikipedia <ref>{{Cite pmid|28509303}}</ref> A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy #MMPMID28509303 Iguchi A; Eino A; Yamazaki H; Ito T; Saeki T; Ito Y; Imai N; Ohsawa Y; In H; Ichida K; Narita I CEN Case Rep 2013[Nov]; 2 (2): 228-33 PMID28509303show ga Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disorder that is characterized by hyperuricemia and chronic renal failure and results in end-stage renal failure. FJHN is caused by mutations in the UMOD gene, which encodes uromodulin. Uromodulin contains three epidermal growth factor (EGF)-like domains, a domain of eight cysteine residues (D8C), and a zona pellucid-like domain. Over 90 % of UMOD mutations are missense mutations, and over 80 % exist in exon 4, which encodes both D8C and the EGF-like domains. A 56-year-old woman was diagnosed with hyperuricemia with a serum uric acid level of 7.5 mg/dL, and stage III chronic kidney disease (CKD) with a serum creatinine level of 1.12 mg/dL and an estimated glomerular filtration rate of 39.9 mL/(min 1.73 m2). The patient had a family history of hyperuricemia and stage IV CKD; both the patient and her affected family members had a novel mutation in the UMOD gene: c.C518G (p.P173R), located between the EGF-like domains and D8C. This mutation, along with previously reported nearby mutations, causes a clinically mild phenotype of FJHN. It is important that physicians consider the diagnosis of FJHN in patients with a family history of hyperuricemia associated with renal dysfunction, even if the patient has only mild renal impairment. äA novel mutation in the uromodulin gene in a Japanese family with a mi(epmc).pdf DeepDyve Pubget Overpricing