Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA.
Morava E, et al. Among authors: wierzba j.
Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10.
Pediatrics. 2012.
PMID: 22966035