Congenital Disorders of Glycosylation

Known as: Congenital Disorders of Glycosylation [Disease/Finding], Carbohydrate-Deficient Glycoprotein Syndrome, Carbohydrate Deficient Glycoprotein Syndrome 
An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth… (More)
National Institutes of Health

Related topics

Related topics

27 relations

Narrower (20)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IdCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IeCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IfCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
(More)
Hereditary DiseasesIn BloodMicrobiologicalchemically induced
(More)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Congenital disorders of glycosylation.
Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis or the attachment of the glycan… (More)
Is this relevant?
2012
2012
TMEM165 deficiency causes a congenital disorder of glycosylation.
Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also… (More)
Is this relevant?
Highly Cited
2009
Highly Cited
2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have… (More)
Is this relevant?
Review
2007
Review
2007
Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.
The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N… (More)
Is this relevant?
Highly Cited
2007
Highly Cited
2007
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric Golgi… (More)
  • figure 1
  • figure 1
  • table 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2005
Review
2005
Altered glycan structures: the molecular basis of congenital disorders of glycosylation.
Congenital disorders of glycosylation (CDG) are a group of diseases that affect glycoprotein biogenesis. Eighteen different types… (More)
Is this relevant?
Review
2001
Review
2001
Congenital disorders of glycosylation: genetic model systems lead the way.
N-linked glycosylation is the most frequent modification of secretory proteins in eukaryotic cells. The highly conserved… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2001
Highly Cited
2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
INTRODUCTION Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of… (More)
  • table 2
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?