The Bartter-Gitelman spectrum: 50-year follow-up with revision of diagnosis after whole-genome sequencing 

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypoma...

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Bibliografiska uppgifter
Huvudupphovsmän: Stevenson, M, Pagnamenta, AT, Mack, HG, Savige, J, Giacopuzzi, E, Lines, KE, Taylor, JC, Thakker, RV
Materialtyp: Journal article
Språk:English
Publicerad: The Endocrine Society 2022