Late-onset manifestation of antenatal bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter
PRESSLER, Carsten A, HEINZINGER, Jolanta, JECK, Nikola, WALDEGGER, Petra, PECHMANN, Ulla, REINALTER, Stephan, KONRAD, Martin, BEETZ, Rolf, SEYBERTH, Hannsjörg W, WALDEGGER, Siegfried
Published in Journal of the American Society of Nephrology (01.08.2006)
Published in Journal of the American Society of Nephrology (01.08.2006)
Get full text
Journal Article
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia
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
Published in Journal of the American Society of Nephrology (01.10.2005)
Published in Journal of the American Society of Nephrology (01.10.2005)
Get full text
Journal Article
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
Peters, Melanie, Ermert, Saskia, Jeck, Nikola, Derst, Christian, Pechmann, Ulla, Weber, Stefanie, Schlingmann, Karl P., Seyberth, Hannsjoerg W., Waldegger, Siegfried, Konrad, Martin
Published in Kidney international (01.09.2003)
Published in Kidney international (01.09.2003)
Get full text
Journal Article