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

doi:10.1002/jimd.12589

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Article

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

Journal of inherited metabolic disease - 1 Mar 2023

Alharbi Hana, Daniel Earnest James Paul, Thies Jenny, Chang Irene, Goldner Dana L, Ng Bobby G, Witters Peter, Aqul Amal, Velez-Bartolomei Frances, Enns Gregory M, Hsu Evelyn, Kichula Elizabeth, Lee Esther, Lourenco Charles, Poskanzer Sheri A, Rasmussen Sara, Saarela Katelyn, Wang YunZu M, Raymond Kimiyo M, Schultz Matthew J, Freeze Hudson H, Lam Christina, Edmondson Andrew C, He Miao

Abstract excerpt

ATP6AP1-CDG is an X-linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we present 11 new patients and clinical updates with biochemical characterization on one previously reported patient. We also document intrafamilial phenotypic variability and atypical presentations, expanding the symptomatology of ATP6AP1-CDG to include...

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PMID: 36651831
DOI: 10.1002/jimd.12589
PMCID: PMC10047170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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