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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

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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IdCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IeCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IfCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
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Hereditary DiseasesIn BloodMicrobiologicalchemically induced
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Papers overview

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Highly Cited
2010
Highly Cited
2010
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
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
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… Expand
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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… Expand
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Highly Cited
2004
Highly Cited
2004
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
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 1 receptor-deficient mice are lean, hyperactive, and hyperphagic and have altered metabolism
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
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… Expand
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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… Expand
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Highly Cited
2000
Highly Cited
2000
Ondansetron for reduction of drinking among biologically predisposed alcoholic patients: A randomized controlled trial.
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
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
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
Attenuation of allergic airway inflammation in IL‐4 deficient mice
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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