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Items: 4

1.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout
Eikan Mishima, Takayasu Mori, Yoko Nakajima, Takafumi Toyohara, Koichi Kikuchi, Yoshitsugu Oikawa, Tetsuro Matsuhashi, Yasuhiro Maeda, Takehiro Suzuki, Masataka Kudo, Sadayoshi Ito, Eisei Sohara, Shinichi Uchida, Takaaki Abe
CEN Case Rep. 2020 Aug; 9(3): 210–214. Published online 2020 Mar 3. doi: 10.1007/s13730-020-00459-9
PMCID:
PMC7320122
AbstractArticlePDF–816K
2.
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review
Ziqiang Lin, Juan Yang, Hong Liu, Dan Cai, Zhenmei An, Yerong Yu, Tao Chen
Ren Fail. 2018; 40(1): 146–151. Published online 2018 Mar 23. doi: 10.1080/0886022X.2018.1450757
PMCID:
PMC6014484
AbstractArticlePDF–883K
3.
A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy
Mi-Na Lee, Ji-Eun Jun, Ghee Young Kwon, Woo-Seong Huh, Chang-Seok Ki
Ann Lab Med. 2013 Jul; 33(4): 293–296. Published online 2013 Jun 24. doi: 10.3343/alm.2013.33.4.293
PMCID:
PMC3698310
AbstractArticlePDF–678K
4.
Tamm-Horsfall Glycoprotein Interacts with Renal Outer Medullary Potassium Channel ROMK2 and Regulates Its Function
Aparna Renigunta, Vijay Renigunta, Turgay Saritas, Niels Decher, Kerim Mutig, Siegfried Waldegger
J Biol Chem. 2011 Jan 21; 286(3): 2224–2235. Published online 2010 Nov 16. doi: 10.1074/jbc.M110.149880
PMCID:
PMC3023518
AbstractArticlePDF–2.4M

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