Plan Maladies Rares " ) and the European Community ,
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis, The American Journal of Medicine, vol.33, issue.6, pp.811-839, 1962. ,
DOI : 10.1016/0002-9343(62)90214-0
Bartter and related syndromes: the puzzle is almost solved, Pediatric Nephrology, vol.12, issue.4, pp.315-342, 1998. ,
DOI : 10.1007/s004670050461
KP: Bartter-and Gitelman-like syndromes: salt-losing tubulopathies 26 PCR, Pediatr Res, vol.62, issue.1, pp.364-373, 2007. ,
DOI : 10.1007/s00467-011-1871-4
URL : http://europepmc.org/articles/pmc3163795?pdf=render
S: Patients with biallelic mutations 3 ,
J: Novel CLCNKB mutations causing Bartter syndrome affect 7 channel surface expression, Hum Mutat, vol.34, pp.1269-78 ,
Genetics of type III Bartter 10 syndrome in Spain, proposed diagnostic algorithm, PLoS One, vol.8, issue.11, p.74673, 2013. ,
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels, Pfl??gers Archiv - European Journal of Physiology, vol.63, issue.1, pp.1713-1736 ,
DOI : 10.1046/j.1523-1755.2003.00730.x
S: Human CLC-KB gene promoter 15 drives the EGFP expression in the specific distal nephron segments and inner ear, J Am Soc Nephrol, vol.16, issue.13, pp.1992-2000, 2002. ,
Salt-losing nephropathy in mice with a null mutation of the Clcnk2 gene, Acta Physiologica, vol.63, issue.3, pp.198-211, 2016. ,
DOI : 10.1046/j.1523-1755.2003.00730.x
Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome, Journal of Korean Medical Science, vol.28, issue.6, pp.821-827, 2013. ,
DOI : 10.3346/jkms.2013.28.6.821
Therapeutic Approaches to Genetic Ion Channelopathies 29 and Perspectives in Drug Discovery, Front Pharmacol, vol.7, pp.121-151, 2016. ,
Bartter's syndrome with impairment of growth hormone secretion, The Lancet, vol.340, issue.8823, p.340860, 1992. ,
DOI : 10.1016/0140-6736(92)92745-2
Bartter syndrome and growth hormone deficiency: three cases, Pediatric Nephrology, vol.297, issue.6, pp.2145-2153, 2012. ,
DOI : 10.1152/ajprenal.00188.2009
H: Evidence that potassium deficiency induces growth 7 ,
I: Growth hormone (GH) receptor and GH-binding 10 ,
A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis, Clinical and Experimental Nephrology, vol.79, issue.10???11, pp.278-82 ,
DOI : 10.1007/s10157-009-0262-7
Association of Gitelman???s Syndrome and Focal Glomerulosclerosis, Nephron, vol.79, issue.2, pp.244-260, 1998. ,
DOI : 10.1159/000045043
C1q nephropathy in association with Gitelman syndrome: a case report, Pediatric Nephrology, vol.48, issue.12, pp.1904-1912, 2006. ,
DOI : 10.1016/S0272-6386(12)80114-4
TGF-??/Smad Signaling in Kidney Disease, Seminars in Nephrology, vol.32, issue.3, pp.236-279 ,
DOI : 10.1016/j.semnephrol.2012.04.002
JC: Reversal of Bartter's syndrome by renal 20 ,
Endocrinological analysis before and after living-related renal transplantation in a 22 patient of Bartter's syndrome], pp.580-586, 1995. ,
D: Comprehensive 28 screening for constitutional RB1 mutations by DHPLC and QMPSF, Hum Mutat, vol.23, pp.193-202, 2004. ,