Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Jun 28, 2024•5 min
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Episode description
In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern.
Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Inez Bosnyak, et al
https://doi.org/10.1002/jmd2.12415
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