The European Rare Kidney Disease Reference Network


Journal Watch


A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
Author(s): Yang W, Zhao S, Xie Y, Mo Z
Source: BMC Nephrol 2018 Dec 17;19(1):362
Publication date: 2018-12-17
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome.
Author(s): Gasongo G, Greenbaum LA, Niel O, Kwon T, Macher MA, Maisin A, Baudouin V, Dossier C, Deschênes G, Hogan J
Source: Pediatr Nephrol 2018 Nov 13;
Publication date: 2018-11-13
Bartter Syndrome and GH Deficiency: three siblings with a novel CLCNKB mutation.
Author(s): Brambilla I, Poddighe D, Mantelli SS, Guarracino C, Marseglia GL
Source: Pediatr Int 2018 Nov 2;
Publication date: 2018-11-2
Vps34/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency.
Author(s): Grieco G, Janssens V, Gaide Chevronnay HP, N'Kuli F, Van Der Smissen P, Wang T, Shan J, Vainio S, Bilanges B, Jouret F, Vanhaesebroeck B, Pierreux CE, Courtoy PJ
Source: Sci Rep 2018 Sep 20;8(1):14133
Publication date: 2018-09-20
Liquorice, Liddle, Bartter or Gitelman-how to differentiate?
Author(s): Mumford E, Unwin RJ, Walsh SB
Source: Nephrol Dial Transplant 2018 Jul 2;
Publication date: 2018-07-2
+ Show 2 more...