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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Crossref DOI link: https://doi.org/10.1038/gim.2016.75

Published Print: 2017-02

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

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
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This article is maintained by: Elsevier

Article Title: Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/gim.2016.75

Content Type: article

Copyright: © 2017, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics