Pseudo-Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report. [PDF]
Clin Case Rep, 2023 Sepe A +9 more
europepmc +1 more source
Antenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene
, 2019 FilizAktürk Acar +5 more
openalex +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 +3 more
doaj
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3. [PDF]
Sci Rep, 2023 García-Castaño A +8 more
europepmc +1 more source
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
core +1 more source
Molecular Analysis of Patients With Type III Bartter Syndrome: Picking Up Large Heterozygous Deletions With Semiquantitative PCR [PDF]
, 2007 Kandai Nozu +14 more
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Corrigendum: Long-term outcome of Bartter syndrome in 54 patients: a multicenter study in Korea. [PDF]
Front Med (Lausanne), 2023 Choi N +11 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 +6 more
europepmc +1 more source
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report [PDF]
, 2017 Shiki Fujino +9 more
openalex +1 more source