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1989 1
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1999 9
2000 10
2001 4
2002 7
2003 6
2004 11
2005 6
2006 13
2007 6
2008 8
2009 10
2010 12
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Page 1
Bartter Syndrome and Gitelman Syndrome.
Fulchiero R, Seo-Mayer P. Fulchiero R, et al. Pediatr Clin North Am. 2019 Feb;66(1):121-134. doi: 10.1016/j.pcl.2018.08.010. Pediatr Clin North Am. 2019. PMID: 30454738 Review.
Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. ...Bartter variants may be associated with polyuria and weakness. Gitelman syn
Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal …
Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.
Do C, Vasquez PC, Soleimani M. Do C, et al. Am J Kidney Dis. 2022 Oct;80(4):536-551. doi: 10.1053/j.ajkd.2021.12.016. Epub 2022 May 5. Am J Kidney Dis. 2022. PMID: 35525634 Free PMC article. Review.
Major clinical states are associated with metabolic alkalosis, including vomiting, aldosterone or cortisol excess, licorice ingestion, chloruretic diuretics, excess calcium alkali ingestion, and genetic diseases such as Bartter syndrome, Gitelman syndrome, an …
Major clinical states are associated with metabolic alkalosis, including vomiting, aldosterone or cortisol excess, licorice ingestion, chlor …
Mitochondrial Dysfunction in Kidney Tubulopathies.
Hoogstraten CA, Hoenderop JG, de Baaij JHF. Hoogstraten CA, et al. Annu Rev Physiol. 2024 Feb 12;86:379-403. doi: 10.1146/annurev-physiol-042222-025000. Epub 2023 Nov 27. Annu Rev Physiol. 2024. PMID: 38012047 Free article. Review.
Dysfunction of the mitochondria has been described for tubulopathies such as Fanconi, Gitelman, and Bartter-like syndromes and renal tubular acidosis. In addition, mitochondrial cytopathies often affect renal (tubular) tissues, such as in Kearns-Sayre and Leigh syndromes. …
Dysfunction of the mitochondria has been described for tubulopathies such as Fanconi, Gitelman, and Bartter-like syndromes and renal …
Renal involvement in primary Sjogren syndrome.
François H, Mariette X. François H, et al. Nat Rev Nephrol. 2016 Feb;12(2):82-93. doi: 10.1038/nrneph.2015.174. Epub 2015 Nov 16. Nat Rev Nephrol. 2016. PMID: 26568188 Review.
Primary Sjogren syndrome (pSS) is an autoimmune disorder characterized by lymphoplasmacytic infiltration of the exocrine (salivary and lachrymal) glands that results in sicca symptoms (dryness of the eyes and mouth). ...Electrolyte disturbances may occur in pSS, such as re …
Primary Sjogren syndrome (pSS) is an autoimmune disorder characterized by lymphoplasmacytic infiltration of the exocrine (salivary an …
Primer on clinical acid-base problem solving.
Whittier WL, Rutecki GW. Whittier WL, et al. Dis Mon. 2004 Mar;50(3):122-62. doi: 10.1016/j.disamonth.2004.01.002. Dis Mon. 2004. PMID: 15069420 Review.
Diseases discovered in the last 30-plus years, for example, Bartter syndrome and Gitelman syndrome, D-lactic acidosis, and bulimia nervosa, can be diagnosed according to characteristic acid-base findings. ...In addition, other electrolyte abnormalities that a …
Diseases discovered in the last 30-plus years, for example, Bartter syndrome and Gitelman syndrome, D-lactic acidosis, …
Risk factors for QTc-prolongation: systematic review of the evidence.
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V. Vandael E, et al. Int J Clin Pharm. 2017 Feb;39(1):16-25. doi: 10.1007/s11096-016-0414-2. Epub 2016 Dec 23. Int J Clin Pharm. 2017. PMID: 28012118 Review.
Results Ten observational studies could be included, with a total of 89,532 patients [prospective cohort design: N = 6; multiple regression analyses: N = 5; median STROBE score = 17/22 (range 15-18)]. Very strong evidence was found for hypokalemia, use of diuretics, antiar …
Results Ten observational studies could be included, with a total of 89,532 patients [prospective cohort design: N = 6; multiple regression …
Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.
Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA. Nuñez-Gonzalez L, et al. Int J Mol Sci. 2021 Oct 22;22(21):11414. doi: 10.3390/ijms222111414. Int J Mol Sci. 2021. PMID: 34768847 Free PMC article. Review.
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. ...The main clinical features of both syndromes are hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Despite having
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. ...The main clinical f
Gitelman syndrome.
Knoers NV, Levtchenko EN. Knoers NV, et al. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Orphanet J Rare Dis. 2008. PMID: 18667063 Free PMC article. Review.
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. ...In a small minority
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypo
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP, de Baaij JHF. Schlingmann KP, et al. Curr Opin Nephrol Hypertens. 2022 Sep 1;31(5):508-515. doi: 10.1097/MNH.0000000000000818. Epub 2022 Jul 11. Curr Opin Nephrol Hypertens. 2022. PMID: 35894287 Free PMC article. Review.
PURPOSE OF REVIEW: Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. ...In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired N …
PURPOSE OF REVIEW: Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalem
Hereditary Renal Diseases.
Mehta L, Jim B. Mehta L, et al. Semin Nephrol. 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. Semin Nephrol. 2017. PMID: 28711074 Review.
In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. ...
In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport …
212 results