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 |
Thematic areasHereditary glomerulopathies Immune glomerulopathies Tubulopathies Metabolic and stone disorders Thrombotic microangiopathies AD structural kidney disorders Renal malformations and ciliopathies Obstructive nephropathies Pediatric CKD and dialysis Pediatric kidney transplantationRecently added publications |