Výsledky vyhledávání - "Ulla Pechmann"

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome

Autor: Nikola Jeck, Siegfried Waldegger, Melanie Peters, Martin Konrad, Ulla Pechmann, Karl P. Schlingmann, Stefanie Weber, Saskia Ermert, Hannsjoerg W. Seyberth, Christian Derst

Publikováno v: Kidney International. 64:923-932

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Background Mutations in the renal K + channel ROMK (Kir 1.1) cause hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS), a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc5be743a763697774afa55c57b515a2
https://doi.org/10.1046/j.1523-1755.2003.00153.x

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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

Autor: Hannsjörg W. Seyberth, Stephan C. Reinalter, Ulla Pechmann, Jolanta Heinzinger, Nikola Jeck, Petra Waldegger, Siegfried Waldegger, Martin Konrad, Rolf Beetz, Carsten A. Pressler

Publikováno v: Journal of the American Society of Nephrology : JASN. 17(8)

Genetic defects of the Na+-K+-2Cl- (NKCC2) sodium potassium chloride co-transporter result in severe, prenatal-onset renal salt wasting accompanied by polyhydramnios, prematurity, and life-threatening hypovolemia of the neonate (antenatal Bartter syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6482e05e47be6bd0f9050cd582fafe
https://pubmed.ncbi.nlm.nih.gov/16807401

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Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia

Autor: Ulla Pechmann, Stefanie Weber, Daniel Lotan, Siegfried Waldegger, Shamima Rahman, Toshihiro Tajima, Hannsjoerg W. Seyberth, Lutz Pelken, Karl P. Schlingmann, Martin Konrad, San-Ging Shu, Daniel L. Metzger, David E. C. Cole, Martin Sassen, Maria Syrrou, Jeffrey J. Prebble, Kerstin Kusch

Publikováno v: Journal of the American Society of Nephrology : JASN. 16(10)

Primary hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by profound hypomagnesemia associated with hypocalcemia. Pathophysiology is related to impaired intestinal absorption of magnesium accompanied by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a17d0deffd266729057f9bd2e00c8c94
https://pubmed.ncbi.nlm.nih.gov/16107578

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