Published in:

01-09-2005

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

Authors: L. J. M. Spaapen, J. A. Bakker, S. B. van der Meer, H. J. Sijstermans, R. A. Steet, R. A. Wevers, J. Jaeken

Published in: Journal of Inherited Metabolic Disease | Issue 5/2005