Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association
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DOI: 10.1002/jimd.12589
Abstract: 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.… read more here.
Keywords: plasma glycan; glycan profiling; atp6ap1 cdg; fractionated plasma ... See more keywords