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/
Series
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028 5 0 |a 3094  |b Henry Stewart Talks 
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040 |a UkLoHST  |b eng  |c UkLoHST 
100 1 |a Schachter, H.  |q (Harry)  |4 spk  |9 106276 
245 1 0 |a Congenital disorders of N-glycosylation  |h [electronic resource] /  |c Harry Schachter. 
260 |a London :  |b Henry Stewart Talks,  |c 2012. 
300 |a 1 online resource (1 streaming video file (31 min.) :  |b color, sound). 
490 1 |a Glycobiology : the discovery of glycan function and its fundamental applications,  |x 2056-452X 
500 |a Animated audio-visual presentation with synchronized narration. 
500 |a Title from title frames. 
505 0 |a 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. 
506 |a Access restricted to subscribers. 
538 |a Mode of access: World Wide Web. 
650 0 |a Genetic disorders.  |9 106277 
650 0 |a Glycosylation.  |9 106278 
650 2 |a Congenital Disorders of Glycosylation.  |9 106279 
650 2 |a Glycosylation.  |9 106280 
830 0 |a Henry Stewart talks.  |p Biomedical & life sciences collection.  |p Glycobiology.  |9 106281 
856 4 0 |u https://hstalks.com/bs/2432/ 
856 4 2 |u https://hstalks.com/bs/p/669/  |3 Series 
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