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The European Rare Kidney Disease Reference Network

  

Journal Watch

Tubulopathies

Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH).
Author(s): Rothenbuhler A, Schnabel D, Högler W, Linglart A
Source: Metabolism 2019 Mar 27;
Publication date: 2019-03-27
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.
Author(s): Salerno EE, Patel SP, Marshall A, Marshall J, Alsufayan T, Mballo CSA, Quade BN, Parker MD
Source: J Am Soc Nephrol 2019 Apr 30;
Publication date: 2019-04-30
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Author(s): Han Y, Zhao X, Wang S, Wang C, Tian D, Lang Y, Bottillo I, Wang X, Shao L
Source: Endocrine 2019 Feb 21;
Publication date: 2019-02-21
Growth hormone deficiency in children with antenatal Bartter syndrome.
Author(s): Spector-Cohen I, Koren A, Sakran W, Tenenbaum-Rakover Y, Halevy R
Source: J Pediatr Endocrinol Metab 2019 Mar 26;32(3):225-231
Publication date: 2019-03-26
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Author(s): Halperin D, Dolgin V, Geylis M, Drabkin M, Yogev Y, Wormser O, Schreiber R, Shalev H, Landau D, Birk OS
Source: Ann Hum Genet 2019 Apr 12;
Publication date: 2019-04-12
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