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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption… Expand
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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… Expand
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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… Expand
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Highly Cited
2004
Highly Cited
2004
The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan biosynthesis that result from… Expand
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Highly Cited
2002
Highly Cited
2002
Melanin-concentrating hormone (MCH) is a cyclic 19-aa hypothalamic neuropeptide derived from a larger prohormone precursor of MCH… Expand
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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… Expand
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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… Expand
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Highly Cited
2000
Highly Cited
2000
CONTEXT Early-onset alcoholism differs from late-onset alcoholism by its association with greater serotonergic abnormality and… Expand
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Highly Cited
1998
Highly Cited
1998
Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The… Expand
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Highly Cited
1994
Highly Cited
1994
To investigate the role of IL‐4 in vivo in allergic asthma, we developed a murine model of allergen‐induced airway inflammation… Expand
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