familial juvenile hyperuricemic nephropathy
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scholarly journals Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease—a series of cases in two families

Renal Failure ◽  
2016 ◽  
Vol 38 (10) ◽  
pp. 1759-1762 ◽  
Author(s):  
Kamila A. Kaminska-Pajak ◽  
Katarzyna Dyga ◽  
Piotr Adamczyk ◽  
Maria Szczepańska ◽  
Marcin Zaniew ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals A case of familial juvenile hyperuricemic nephropathy with a novel UMOD mutation in Japanese family.

2015 ◽  
Vol 28 (1) ◽  
pp. 43-49
Author(s):  
Maki Shimizu ◽  
Yukiko Kinoshita ◽  
Tetsuro Furumoto ◽  
Yuko Ichihara ◽  
Keisuke Fukudome ◽  
...  
Keyword(s):  
Japanese Family ◽  
Familial Juvenile Hyperuricemic Nephropathy

Gout as a Manifestation of Familial Juvenile Hyperuricemic Nephropathy

2014 ◽  
Vol 20 (8) ◽  
pp. 442-444 ◽  
Author(s):  
Heather Spain ◽  
Troy Plumb ◽  
Ted R. Mikuls
Keyword(s):  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Topiroxostat improved the apoptosis of cells expressing Uromodulin Mutation C112Y Causing Familial Juvenile Hyperuricemic Nephropathy (FJHN)

2014 ◽  
Vol 38 (1) ◽  
pp. 94
Author(s):  
Peili Li ◽  
Sulistiyati Bayu Utami ◽  
Nobuhito Ikeda ◽  
Tomomi Notsu ◽  
Udin Bahrudin ◽  
...  
Keyword(s):  
Familial Juvenile Hyperuricemic Nephropathy

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking

Gene ◽  
2013 ◽  
Vol 531 (2) ◽  
pp. 363-369 ◽  
Author(s):  
Maojing Liu ◽  
Yuqing Chen ◽  
Yu Liang ◽  
Ying Liu ◽  
Suxia Wang ◽  
...  
Keyword(s):  
Intracellular Trafficking ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation

2013 ◽  
Vol 10 (1) ◽  
pp. 7-12
Author(s):  
Young-Ki Lee ◽  
Dong Hun Lee ◽  
Jung-Woo Noh
Keyword(s):  
Gene Mutation ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy

2013 ◽  
Vol 2 (2) ◽  
pp. 228-233 ◽  
Author(s):  
Akira Iguchi ◽  
Atsushi Eino ◽  
Hajime Yamazaki ◽  
Tomoyuki Ito ◽  
Takako Saeki ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Japanese Family ◽  
Mild Phenotype ◽  
Familial Juvenile Hyperuricemic Nephropathy
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