Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Author(s):
Dimitrov, B.; Himmelreich, N.; Ederveen, A.L.H.; Luchtenborg, C.; Okun, J.G.; Breuer, M.; Hutter, A.M.; Carl, M.; Guglielmi, L.; Hellwig, A.; Thiemann, K.C.; Jost, M.; Peters, V.; Staufner, C.; Hoffmann, G.F.; Hackenberg, A.; Paramasivam, N.; Wiemann, S.; Eils, R.; Schlesner, M.; Strahl, S.; Brugger, B.; Wuhrer, M. (0000-0002-0814-4995); Korenke, G.C.; Thiel, C.
Published
2018
Publication type
Article / Letter to editor
Date issued
2018-03-31
Language
English
Is part of
Molecular Genetics and Metabolism (2018), Vol. 123, no. 3, p. 364-374
hdl
1887/95553
doi
10.1016/j.ymgme.2018.01.008