Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

by Whybra, Catharina, Mengel, Eugen, Russo, Alexandra, Bahlmann, Franz, Kampmann, Christoph, Beck, Michael, Eich, Elke, Mildenberger, Eva
Published 2012

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

by Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S
Published 2016