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Two Japanese Patients with Gitelman Syndrome

Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria due to defective tubular reabsorption of magnesium and potassium. This disease is caused by mutations of the thiazide-sensitive Na-Cl cotransporter (NCCT) gene, SLC1...

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Detalles Bibliográficos
Autores principales: Tajima, Toshihiro, Tabata, Yuichi, Tao, Kayoko, Yokota, Ichiro, Takahashi, Yutaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004865/
https://www.ncbi.nlm.nih.gov/pubmed/24790334
http://dx.doi.org/10.1297/cpe.15.137