Search Results - "PECHMANN, Ulla"

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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Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia by SCHLINGMANN, Karl P, SASSEN, Martin C, METZGER, Daniel L, RAHMAN, Shamima, TAJIMA, Toshihiro, SHU, San-Ging, WALDEGGER, Siegfried, SEYBERTH, Hannsjoerg W, KONRAD, Martin, WEBER, Stefanie, PECHMANN, Ulla, KUSCH, Kerstin, PELKEN, Lutz, LOTAN, Daniel, SYRROU, Maria, PREBBLE, Jeffrey J, COLE, David E. C

“…Primary hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by profound hypomagnesemia associated with…”
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Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome by Peters, Melanie, Ermert, Saskia, Jeck, Nikola, Derst, Christian, Pechmann, Ulla, Weber, Stefanie, Schlingmann, Karl P., Seyberth, Hannsjoerg W., Waldegger, Siegfried, Konrad, Martin

“…Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Mutations in the renal K+ channel ROMK (Kir…”
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