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Results 1 - 1 of 1 for Congenital disorder of deglycosylation 2
  1. ... L. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. ...