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Paper Details

Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
5
2023
ATP6AP1, CDG, Man4GlcNAc2, Man5GlcNAc2, N, X-linked disorder, dystonia, glycosylation abnormalities, hepatocellular carcinoma, hepatopathy, immunodeficiency, immunoglobulins, isolated immune deficiency, lysosomal abnormalities, mannose, patient, patients, plasma, purified, transferrin, type II transferrin
Author NameAffiliation
Bobby G Ng
Gregory M EnnsLucile Packard Children's Hospital and Stanford University
Kimiyo RaymondMayo Clinic
Hudson H Freeze
Andrew C EdmondsonThe Children's Hospital of Philadelphia
Miao HeChildren's Hospital of Philadelphia
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