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content:sialotransferrin [2020/02/16 18:42] – created icna | content:sialotransferrin [2020/02/16 18:43] (current) – [Transferrin Isoforms serum] icna | ||
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* CDG disorders result from enzyme defects in the post-translational glycosylation of proteins and are associated with developmental delay, dysmorphic features, mental retardation, | * CDG disorders result from enzyme defects in the post-translational glycosylation of proteins and are associated with developmental delay, dysmorphic features, mental retardation, | ||
* specific enzyme tests are required if the transferrin isoform pattern is suggestive of an abnormal pattern. | * specific enzyme tests are required if the transferrin isoform pattern is suggestive of an abnormal pattern. | ||
- | * Other conditions such as acute crisis of hereditary fructose intolerance, | + | * other conditions such as acute crisis of hereditary fructose intolerance, |
* Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion[(: | * Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion[(: | ||