Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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

Episode metadata supplied by the publisher feed · Published Jun 28, 2024

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Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency

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