Literature DB >> 15272470

Congenital disorders of glycosylation (CDG): update and new developments.

J Jaeken1.   

Abstract

After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. It was concluded that we are still at the beginning of 'explosive' research on CDG and that we need to apply new and known technologies to the diagnosis, understanding of pathophysiology, and treatment of CDG.

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Year:  2004        PMID: 15272470     DOI: 10.1023/b:boli.0000031221.44647.9e

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  6 in total

Review 1.  Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

Authors:  P L Calvo; S Pagliardini; M Baldi; A Pucci; L Sturiale; D Garozzo; T Vinciguerra; C Barbera; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2008-12-09       Impact factor: 4.982

2.  Pontomedullary disconnection: fetal and neonatal considerations.

Authors:  Emma McCann; David Pilling; Markus Hesseling; Devender Roberts; Nim Subhedar; Elizabeth Sweeney
Journal:  Pediatr Radiol       Date:  2005-04-06

3.  Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Authors:  B Shanti; M Silink; K Bhattacharya; N J Howard; K Carpenter; M Fietz; P Clayton; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2009-04-27       Impact factor: 4.982

Review 4.  Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.

Authors:  Deniz Baycin-Hizal; Allan Gottschalk; Elena Jacobson; Sunny Mai; Daniel Wolozny; Hui Zhang; Sharon S Krag; Michael J Betenbaugh
Journal:  Biochem Biophys Res Commun       Date:  2014-06-24       Impact factor: 3.575

Review 5.  Congenital disorders of glycosylation--a challenging group of IEMs.

Authors:  J Vodopiutz; O A Bodamer
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

Review 6.  Insights into complexity of congenital disorders of glycosylation.

Authors:  Sandra Supraha Goreta; Sanja Dabelic; Jerka Dumic
Journal:  Biochem Med (Zagreb)       Date:  2012       Impact factor: 2.313

  6 in total

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