content:sialotransferrin

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content:sialotransferrin [2020/02/16 18:42] – created icnacontent: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, neurological deficits, and enteropathy.   * CDG disorders result from enzyme defects in the post-translational glycosylation of proteins and are associated with developmental delay, dysmorphic features, mental retardation, neurological deficits, and enteropathy.
   * 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, galactosemia, and acute liver disease may have a congenital disorders of glycosylation (CDG) profile that is indistinguishable from any other true CDG type I cases[(:cite:mayo>Mayo Foundation for Medical Education and Research. (n.d.). Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum. Retrieved February 15, 2020, from https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/89891)]+  * other conditions such as acute crisis of hereditary fructose intolerance, galactosemia, and acute liver disease may have a congenital disorders of glycosylation (CDG) profile that is indistinguishable from any other true CDG type I cases[(:cite:mayo>Mayo Foundation for Medical Education and Research. (n.d.). Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum. Retrieved February 15, 2020, from https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/89891)]
   * Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion[(:cite:mayo)].   * Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion[(:cite:mayo)].
  
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  • Last modified: 2020/02/16 18:43
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