Search Results - "HEINZINGER, Jolanta"

Hypomagnesemia with Secondary Hypocalcemia due to a Missense Mutation in the Putative Pore-forming Region of TRPM6 by Chubanov, Vladimir, Schlingmann, Karl P., Wäring, Janine, Heinzinger, Jolanta, Kaske, Silke, Waldegger, Siegfried, Schnitzler, Michael Mederos y, Gudermann, Thomas

“…Hypomagnesemia with secondary hypocalcemia is an autosomal recessive disorder caused by mutations in the TRPM6 gene. Current experimental evidence suggests…”
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Late-onset manifestation of antenatal bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter by PRESSLER, Carsten A, HEINZINGER, Jolanta, JECK, Nikola, WALDEGGER, Petra, PECHMANN, Ulla, REINALTER, Stephan, KONRAD, Martin, BEETZ, Rolf, SEYBERTH, Hannsjörg W, WALDEGGER, Siegfried

“…Genetic defects of the Na+-K+-2Cl- (NKCC2) sodium potassium chloride co-transporter result in severe, prenatal-onset renal salt wasting accompanied by…”
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