ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. DemmerLuisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Regal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vollo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, Univ Washington, Gert Matthijs, Hudson H. Freeze

Research output: Contribution to journalArticle

25 Citations (Scopus)
Original languageEnglish
Pages (from-to)653-660
Number of pages8
JournalHuman Mutation
Volume37
Issue number7
DOIs
Publication statusPublished - Jul 2016

Keywords

  • CDG
  • asparagine-linked glycosylation protein 1
  • carbohydrate-deficient transferrin
  • xeno-tetrasaccharide

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