Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association

Alharbi, H., Daniel, E. J. P., Thies, J., Chang, I., Goldner, D. L., Ng, B. G., Witters, P., Aqul, A., Velez‐Bartolomei, F., Enns, G. M., Hsu, E., Kichula, E., Lee, E., Lourenco, C., Poskanzer, S. A., Rasmussen, S., Saarela, K., Wang, Y. M., Raymond, K. M., … He, M. (2023). Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association. Journal of Inherited Metabolic Disease, 46(2), 300–312. Portico. https://doi.org/10.1002/jimd.12589
Authors:
Hana Alharbi
Earnest James Paul Daniel
Jenny Thies
Irene Chang
Dana L Goldner
Bobby G Ng
Peter Witters
Amal Aqul
Frances Velez-Bartolomei
Gregory M Enns
Evelyn Hsu
Elizabeth Kichula
Esther Lee
Charles Lourenco
Sheri A Poskanzer
Sara Rasmussen
Katelyn Saarela
YunZu M Wang
Kimiyo M Raymond
Matthew J Schultz
Hudson H Freeze
Christina Lam
Andrew C Edmondson
Miao He
Affiliated Authors:
Dana L Goldner
Author Keywords:
atp6ap1-cdg
congenital disorder of glycosylation
dystonia
hyperkinetic movement
immunodeficiency
liver failure
Publication Type:
Article
Unique ID:
10.1002/jimd.12589
PMID:
Publication Date:
Data Source:
PubMed

Record Created: