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Mario G. Bianchetti

Researcher at University of Lugano

Publications -  144
Citations -  2149

Mario G. Bianchetti is an academic researcher from University of Lugano. The author has contributed to research in topics: Hyponatremia & Vasculitis. The author has an hindex of 22, co-authored 144 publications receiving 1785 citations. Previous affiliations of Mario G. Bianchetti include University of Milan.

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Journal Article

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman Syndrome

TL;DR: 12 additional mutations consistent with a loss of function of the Na-Cl cotransporter in GS are shown, including two missense replacements and six missense mutations that could represent ancient mutations.
Journal ArticleDOI

Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome)

TL;DR: It seems that this genetic heterogeneity is associated with a different clinical expression with frequent tetanic episodes and lower plasma potassium and magnesium levels in the autosomal recessive form, and there are two different types of genetic transmission of GS.
Journal ArticleDOI

Cardiac work up in primary renal hypokalaemia-hypomagnesaemia (Gitelman syndrome)

TL;DR: The QT interval is often prolonged in primary renal hypokalaemia-hypomagnesaemia, confirming that potassium and magnesium depletion tends to prolong the duration of the action potential of the cardiomyocyte.
Journal Article

Behavioral and functional abnormalities linked with recurrent urinary tract infections in girls.

TL;DR: Most girls referred for evaluation of three or more symptomatic urinary tract infections have host-mediated predisposing abnormalities: infrequent voiding, poor fluid intake, functional stool retention or voiding dysfunction.