Results 91 to 100 of about 2,424,136 (181)

Functional analysis of compound heterozygous variations in the CLCNKB gene in a patient with Bartter syndrome type Ⅲ

Linchuang shenzangbing zazhi
ObjectiveTo explore the functional characteristics of a patient of Bartter syndrome type III and compound heterozygous mutations in CLCNKB gene and explore the rescue effect of cystic fibrosis transmembrane conductance regulator modulator compound VX-809
Yu-wen Cai, Xue-qin Cheng, Ruo-chen Che, Chun-li Wang, Song-ming Huang   +4 more
doaj   +1 more source

Inherited renal tubular defects with hypokalemia

Saudi Journal of Kidney Diseases and Transplantation, 2009
Bartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity.
Muthukrishnan J, Modi K, Kumar P, Jha Ratan   +3 more
doaj  

Pseudo-Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report. [PDF]

Clin Case Rep, 2023
Sepe A, Romano C, Landi I, Castaldo A, Cimbalo C, Farina F, Scorza M, Salvadori L, Raia V, Tosco A.   +9 more
europepmc   +1 more source

Bartter Syndrome: Perspectives of a Pediatric Nephrologist. [PDF]

Electrolyte Blood Press, 2022
Choi N, Kang HG.
europepmc   +1 more source

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3. [PDF]

Sci Rep, 2023
García-Castaño A, Gómez-Conde S, Gondra L, Herrero M, Aguirre M, de la Hoz AB, Castaño L, Renaltube group, Madariaga L.   +8 more
europepmc   +1 more source

Corrigendum: Long-term outcome of Bartter syndrome in 54 patients: a multicenter study in Korea. [PDF]

Front Med (Lausanne), 2023
Choi N, Kim SH, Bae EH, Yang EM, Lee KH, Lee SH, Lee JH, Ahn YH, Cheong HI, Kang HG, Hyun HS, Kim JH.   +11 more
europepmc   +1 more source

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Journal of the American Society of Nephrology, 2017
Elisabeth Seys, O. Andrini, M. Keck, L. Mansour-Hendili, P. Courand, C. Simian, G. Deschênes, T. Kwon, A. Bertholet-Thomas, G. Bobrie, J. Borde, G. Bourdat-Michel, S. Decramer, M. Cailliez, P. Krug, P. Cozette, J. Delbet, L. Dubourg, Dominique Chaveau, M. Fila, N. Jourde-Chiche, B. Knebelmann, M. Lavocat, S. Lemoine, D. Djeddi, B. Llanas, F. Louillet, É. Merieau, M. Mileva, L. Mota-Vieira, C. Mousson, F. Nobili, R. Novo, G. Roussey-Kesler, I. Vrillon, S. Walsh, J. Teulon, A. Blanchard, R. Vargas-Poussou   +38 more
semanticscholar   +1 more source

Complexities of Bartter Syndrome Type III: A Case Study in Jordan. [PDF]

Oxf Med Case Reports
Hanifa H, Al-Badareen Y, Al-Refaai MM, Ganama NM, Alabrash MS, Alsaleh B.   +5 more
europepmc   +1 more source

Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report. [PDF]

Clin Pediatr Endocrinol, 2023
Toyoda J, Adachi M, Ochi A, Okada Y, Honda A, Mizuno K, Nozu K.   +6 more
europepmc   +1 more source

Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report. [PDF]

Front Pediatr, 2023
Liu J, Zhang Y, Wu X, Li Y.
europepmc   +1 more source