Results 111 to 120 of about 1,230,526 (158)

Gitelman's syndrome with panhypopituitarism: Reno-endocrine interplay. [PDF]

Indian J Endocrinol Metab, 2012
Upreti V, Sharda C, Kumar BV, Dhull P, Prakash MS.   +4 more
europepmc   +1 more source

Impaired ACE2 glycosylation and protease activity lowers COVID-19 susceptibility in Gitelman's and Bartter's syndromes. [PDF]

J Intern Med, 2022
Bertoldi G, Ravarotto V, Sgarabotto L, Davis PA, Gobbi L, Calò LA.   +5 more
europepmc   +1 more source

Fetal alcohol syndrome; guidelines for referral and diagnosis [PDF]

National Center on Birth Defects and Developmental Disabilities in coordination with National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect (American Academy of Pediatrics, American College of Obstetricians and Gynecologists, March of ...

core  

Two cases of successful pregnancy in patients with Gitelman's syndrome. [PDF]

Clin Nephrol, 2015
Waguespack DR, Kasekar R, Abdel-Kader K, Fissell RB.   +3 more
europepmc   +1 more source

ACE2 and SARS-CoV-2 Infection Risk: Insights From Patients With Two Rare Genetic Tubulopathies, Gitelman's and Bartter's Syndromes. [PDF]

Front Med (Lausanne), 2021
Calò LA, Rigato M, Sgarabotto L, Gianesello L, Bertoldi G, Ravarotto V, Davis PA.   +6 more
europepmc   +1 more source

Genotype-penotype correlations provide new insights in the pathogenesis of Gitelman's syndrome

, 2007
Gitelman's syndrome (GS) is a relatively frequent salt-losing tubulopathy caused by mutations in the SLC12A3 gene encoding the sodium-chloride cotransporter NCC. Although is often described as a mild variant of the salt-losing tubular disorders, clinical
Riveira-Munoz, Eva
core  

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome. [PDF]

Clin J Am Soc Nephrol, 2011
Lo YF, Nozu K, Iijima K, Morishita T, Huang CC, Yang SS, Sytwu HK, Fang YW, Tseng MH, Lin SH.   +9 more
europepmc   +1 more source

Oxidants and Cardiorenal Vascular Remodeling-Insights from Rare Genetic Tubulopathies: Bartter's and Gitelman's Syndromes. [PDF]

Antioxidants (Basel), 2023
Sgarabotto L, Ravarotto V, Stefanelli LF, Cacciapuoti M, Davis PA, Nalesso F, Calò LA.   +6 more
europepmc   +1 more source

Diuretic loading test and use of Bartter's Normogram in diagnosing a case of Gitelman's syndrome: Relook into pathophysiology. [PDF]

Indian J Nephrol, 2011
Goswami RP, Mandal S, Karmakar PS, Ghosh A.   +3 more
europepmc   +1 more source

A pseudo-dominant form of Gitelman's syndrome. [PDF]

NDT Plus, 2011
de La Faille R, Vallet M, Venisse A, Nau V, Collet-Gaudillat C, Houillier P, Jeunemaitre X, Vargas-Poussou R.   +7 more
europepmc   +1 more source