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

Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M

Open source

DOI: 10.1002/jimd.12589
Published: 2023 Mar
Container: Journal of inherited metabolic disease
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/jimd.12589,
  title = {Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.},
  author = {Alharbi H and Daniel EJP and Thies J and Chang I and Goldner DL and Ng BG and Witters P and Aqul A and Velez-Bartolomei F and Enns GM and Hsu E and Kichula E and Lee E and Lourenco C and Poskanzer SA and Rasmussen S and Saarela K and Wang YM and Raymond KM and Schultz MJ and Freeze HH and Lam C and Edmondson AC and He M},
  year = {2023},
  journal = {Journal of inherited metabolic disease},
  doi = {10.1002/jimd.12589},
  url = {https://doi.org/10.1002/jimd.12589}
}

RIS

TY  - JOUR
TI  - Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
AU  - Alharbi H
AU  - Daniel EJP
AU  - Thies J
AU  - Chang I
AU  - Goldner DL
AU  - Ng BG
AU  - Witters P
AU  - Aqul A
AU  - Velez-Bartolomei F
AU  - Enns GM
AU  - Hsu E
AU  - Kichula E
AU  - Lee E
AU  - Lourenco C
AU  - Poskanzer SA
AU  - Rasmussen S
AU  - Saarela K
AU  - Wang YM
AU  - Raymond KM
AU  - Schultz MJ
AU  - Freeze HH
AU  - Lam C
AU  - Edmondson AC
AU  - He M
PY  - 2023
JO  - Journal of inherited metabolic disease
DO  - 10.1002/jimd.12589
UR  - https://doi.org/10.1002/jimd.12589
ER  -

APA

H, A., EJP, D., J, T., I, C., DL, G., BG, N., P, W., A, A., F, V., GM, E., E, H., E, K., E, L., C, L., SA, P., S, R., K, S., YM, W., KM, R., MJ, S., HH, F., C, L., AC, E., & M, H. (2023). Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.. Journal of inherited metabolic disease. https://doi.org/10.1002/jimd.12589

Source records

pubmed · retrieved 2026-09-26T22:50:16.238Z