bibliographicCitation |
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genetics in Medicine. 2017 Feb;19(2):160–8. doi: 10.1038/gim.2016.75. |