• Media type: E-Article
  • Title: Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
  • Contributor: Lam, Christina; Ferreira, Carlos; Krasnewich, Donna; Toro, Camilo; Latham, Lea; Zein, Wadih M.; Lehky, Tanya; Brewer, Carmen; Baker, Eva H.; Thurm, Audrey; Farmer, Cristan A.; Rosenzweig, Sergio D.; Lyons, Jonathan J.; Schreiber, John M.; Gropman, Andrea; Lingala, Shilpa; Ghany, Marc G.; Solomon, Beth; Macnamara, Ellen; Davids, Mariska; Stratakis, Constantine A.; Kimonis, Virginia; Gahl, William A.; Wolfe, Lynne
  • Published: Elsevier BV, 2017
  • Published in: Genetics in Medicine, 19 (2017) 2, Seite 160-168
  • Language: English
  • DOI: 10.1038/gim.2016.75
  • ISSN: 1098-3600
  • Origination:
  • Footnote:
  • Access State: Open Access