Gitelman syndrome: novel mutation and long-term follow-up

Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon, Carol Nelson‐Williams, Margaret J. Bia et al. · Nature Genetics · 1996 · 1.2K citations

Life Sciences, Genetics, Human Genetics +2

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies

Melanie Peters, Nikola Jeck, Stephan C. Reinalter et al. · The American Journal of Medicine · 2002 · 262 citations

Medicine, Endocrinology, Nephrology +13

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Henny H. Lemmink, Nine Knoers, Lothar Károlyi et al. · Kidney International · 1998 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Transcriptional and Functional Analyses of SLC12A3 Mutations

Eva Riveira‐Muñoz, Chang Qing, Nathalie Godefroid et al. · Journal of the American Society of Nephrology · 2007 · 153 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Thiazide Test for the Diagnosis of Renal Tubular Hypokalemic Disorders

Giacomo Colussi, Alberto Bettinelli, Silvana Tedeschi et al. · Clinical Journal of the American Society of Nephrology · 2007 · 126 citations

Medicine, Nephrology, Pediatrics +14