content:sialotransferrin

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content:sialotransferrin [2020/02/16 18:42]
icna created
content:sialotransferrin [2020/02/16 18:43] (current)
icna [Transferrin Isoforms serum]
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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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