المؤلفون: Topak, Ali¹ at204986@hotmail.com

المصدر: Laboratory Medicine. Jan2024, Vol. 55 Issue 1, p13-19. 7p.

مصطلحات موضوعية: *KIDNEY disease diagnosis, *BARTTER syndrome, *MOLECULAR diagnosis, *SEQUENCE analysis, *HUMAN research subjects, *GITELMAN syndrome, *GENETIC testing, *GENETIC variation, *RETROSPECTIVE studies, *ACQUISITION of data, *KIDNEY diseases, *INFORMED consent (Medical law), *BIOINFORMATICS, *MEDICAL records, *DESCRIPTIVE statistics, *SOCIODEMOGRAPHIC factors, *ALGORITHMS

المؤلفون: Demet Tosun, Sebahat Tülpar, Rümeysa Yasemin Çiçek

المصدر: Bagcilar Medical Bulletin, Vol 9, Iss 1, Pp 71-73 (2024)

مصطلحات موضوعية: bartter syndrome, hypokalemia, metabolic alkalosis, Medicine

وصف الملف: electronic resource

العلاقة: http://behmedicalbulletin.org/archives/archive-detail/article-preview/a-rare-diagnosis-in-a-pediatric-case-without-metab/63757Test; https://doaj.org/toc/2547-9431Test

الوصول الحر: https://doaj.org/article/1ea2914aa93a43fe89d6fe43cefc6841Test

المؤلفون: Gaggar, Payal¹, D., Sree Bhushan Raju¹ sreebhushan@hotmail.com, M., Ravi Tej¹, Pragna, P.¹

المصدر: Indian Journal of Nephrology. Jan/Feb2023, Vol. 33 Issue 1, p57-60. 4p.

مصطلحات موضوعية: *TREATMENT of chronic kidney failure, *BARTTER syndrome, *CHRONIC kidney failure, *GENETIC mutation, *BIOPSY, *SEQUENCE analysis, *ION channels, *HUMAN genome, *DELAYED onset of disease, *POTASSIUM, *KIDNEY calcification, *COMPUTED tomography, *HEMODIALYSIS, *ADULTS

مصطلحات جغرافية: INDIA

المؤلفون: Huseynli, Bahruz¹, Atmış, Bahriye¹ bahriyeatmis@gmail.com, Cevizli, Derya¹, Bişgin, Atıl², Bayazıt, Aysun Karabay¹

المصدر: Turkish Archives of Pediatrics. Nov2022, Vol. 57 Issue 6, p644-650. 7p.

مصطلحات موضوعية: *BARTTER syndrome, *CHRONIC kidney failure, *GLOMERULAR filtration rate, *GENETIC mutation, *GITELMAN syndrome, *FISHER exact test, *MANN Whitney U Test, *T-test (Statistics), *DESCRIPTIVE statistics, *CHI-squared test, *DATA analysis software, *LONGITUDINAL method, *PHENOTYPES, *SYMPTOMS

مصطلحات جغرافية: TURKEY

المؤلفون: Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Antenatal Bartter syndrome, Whole exome sequencing, MAGED2, Intronic variant, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/bd60326e9d8749539029967305d4f013Test

المؤلفون: D'Angelantonio, D.^1,2, Majore, S.^1,2, Di Netta, T.³, Zotta, F.⁴, Parise, G.^1,2, Savino, E.^1,2, Rosignoli, S.⁵, Bizzarri, B.⁶, Signore, F.³, Grammatico, P.^1,2, Bottillo, I.¹ irene.bottillo@uniroma1.it

المصدر: Archives de Pédiatrie. Oct2022, Vol. 29 Issue 7, p530-533. 4p.

مصطلحات موضوعية: *BARTTER syndrome, *INFLAMMATION, *CREATINE kinase, *STEROIDS, *ANTIBIOTICS

المؤلفون: Roumeliotou, Sofia¹, Theohari, Anastasia¹, Tsamoulis, Donatos¹, Vafeidou, Kyriaki¹, Siountri, Iliana¹, Siomou, Ekaterini¹ eksiomou@yahoo.gr

المصدر: Pediatric Nephrology. Aug2022, Vol. 37 Issue 8, p1791-1794. 4p. 1 Chart.

مصطلحات موضوعية: *TREATMENT of hypokalemia, *BARTTER syndrome, *SALT, *SODIUM, *GITELMAN syndrome, *WATER-electrolyte balance (Physiology), *DIFFERENTIAL diagnosis, *GENETIC testing, *POTASSIUM, *MAGNESIUM, *HYPOKALEMIA

العنوان البديل: Metabolik Alkaloz Olmayan Pediyatrik Olguda Nadir Bir Tanı; Bartter Sendromu. (Turkish)

المؤلفون: Tosun, Demet, Tülpar, Sebahat, Çiçek, Rümeysa Yasemin

المصدر: Bagcilar Medical Bulletin / Bağcılar Tıp Bülteni; 2024, Vol. 9 Issue 1, p71-73, 3p

مصطلحات موضوعية: ALKALOSIS, BARTTER syndrome, DIFFERENTIAL diagnosis, POLYURIA, HYPOKALEMIA

المؤلفون: Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: Bartter syndrome type 3, Salt-wasting tubulopathy, Long-read sequencing, Target enrichment, CLCNKA, CLCNKB, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/562f2d8f33f64894b552c46d64c66672Test

المؤلفون: Vargas-Poussou, Rosa^1,2,3 rosa.vargas@aphp.fr

المصدر: Pediatric Nephrology. Feb2022, Vol. 37 Issue 2, p239-252. 14p. 3 Diagrams, 3 Charts.

مصطلحات موضوعية: *BARTTER syndrome, *HOMEOSTASIS, *PROTEINS, *GENETIC mutation, *KIDNEY tubules, *KIDNEY diseases, *INBORN errors of metabolism, *RENAL tubular transport disorders, *MEMBRANE proteins