Congenital disorders of N-glycosylation

Congenital disorders of N-glycosylation

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Bibliographic Details
Other Authors: Schachter, H. (Harry) (Speaker)
Format: Electronic Video
Language:English
Published: London : Henry Stewart Talks, 2012.
Series:Henry Stewart talks. Biomedical & life sciences collection. Glycobiology.
Subjects:
Genetic disorders.
Glycosylation.
Congenital Disorders of Glycosylation.
Online Access:https://hstalks.com/bs/2432/
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Table of Contents:
  • Contents: Orphan diseases
  • Post-translational modifications
  • Definition of N-glycosylation
  • The significance of the extra-cellular location of N-glycosylation
  • Diagnosis and clinical features of patients with Congenital Disorders of Glycosylation (CDGs)
  • The biochemical mechanisms of normal N-glycosylation
  • Description of 47 mutations in the N-glycosylation pathway that result in CDG.

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