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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… 
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
Hereditary DiseasesIn BloodMicrobiologicalchemically induced

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Congenital disorder of glycosylation (CDG) type Ie. A new patient
Summary: CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan… 
Highly Cited
2000
Highly Cited
2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Abstract. Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent… 
Highly Cited
1999
Highly Cited
1999
Microheterogeneity of serum glycoproteins in patients with chronic alcohol abuse compared with carbohydrate-deficient glycoprotein syndrome type I.
BACKGROUND Chronic alcohol abuse alters the normal N-glycosylation of transferrin, producing the carbohydrate-deficient… 
Highly Cited
1998
Highly Cited
1998
Carbohydrate-deficient transferrin and conventional alcohol markers as indicators for brief intervention among heavy drinkers in primary health care.
Brief intervention is a promising treatment for heavy drinking. The present study examined the diagnostic value of carbohydrate… 
Highly Cited
1997
Highly Cited
1997
Carbohydrate-deficient transferrin and alcohol dependency: variation in response to alcohol intake among different groups of patients.
Carbohydrate-deficient transferrin (CDT) and gamma-glutamyltransferase (GT) were evaluated as markers of alcohol dependency in… 
Highly Cited
1995
Highly Cited
1995
The optimal growth hormone replacement dose in adults, derived from bioimpedance analysis.
The prevalence of clinical signs and symptoms related to fluid retention is high in most studies evaluating the efficacy of GH… 
Highly Cited
1993
Highly Cited
1993
Serum carbohydrate-deficient transferrin as a marker of alcohol consumption in patients with chronic liver diseases.
We measured serum levels of carbohydrate deficient transferrin (CDT) in 420 subjects: 100 healthy blood donors, 82 healthy… 
Highly Cited
1988
Highly Cited
1988
Carbohydrate-deficient transferrin, a marker for chronic alcohol consumption in different ethnic populations.
Serum levels of carbohydrate-deficient transferrin (CDT) were determined in a racially mixed population of 107 alcoholics, 18… 
Highly Cited
1988
Highly Cited
1988
A comparison of serum carbohydrate-deficient transferrin with other biological markers of excessive drinking.
In a study of suggested biological markers of excessive drinking, serum carbohydrate-deficient transferrin (CDT) was compared… 
Highly Cited
1987
Highly Cited
1987
Carbohydrate-deficient transferrin in serum in patients with liver diseases.
Carbohydrate-deficient transferrin (CDT) in serum was analyzed by isocratic microanion exchange chromatography at pH 5.65… 
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