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

Papers overview

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Review
2013
Review
2013
Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis or the attachment of the glycan… (More)
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2012
2012
Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also… (More)
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Highly Cited
2009
Highly Cited
2009
Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have… (More)
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Review
2007
Review
2007
The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N… (More)
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Highly Cited
2007
Highly Cited
2007
We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric Golgi… (More)
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Highly Cited
2006
Highly Cited
2006
The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity… (More)
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Review
2005
Review
2005
Congenital disorders of glycosylation (CDG) are a group of diseases that affect glycoprotein biogenesis. Eighteen different types… (More)
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Review
2001
Review
2001
N-linked glycosylation is the most frequent modification of secretory proteins in eukaryotic cells. The highly conserved… (More)
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Highly Cited
2001
Highly Cited
2001
Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of… (More)
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Highly Cited
2001
Highly Cited
2001
INTRODUCTION Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of… (More)
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