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Fractionated Plasma N-glycan Profiling of Novel Cohort of ATP6AP1-CDG Subjects Identifies Phenotypic Association

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

JOURNAL OF INHERITED METABOLIC DISEASE（2023）

Cited 6|Views47
Key words
ATP6AP1-CDG,congenital disorder of glycosylation,dystonia,hyperkinetic movement,immunodeficiency,liver failure
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