Results 161 to 170 of about 11,049 (200)

Glycosylation Analysis for Congenital Disorders of Glycosylation

Current Protocols in Human Genetics, 2015
AbstractCongenital disorders of glycosylation (CDG) are a group of diseases with highly variable phenotypes and inconsistent clinical features. Since the first description of a CDG in 1980, approximately 100 disorders have been identified. Most of these are defects in protein glycosylation, although an increasing number are defects of glycolipid or ...
Xueli, Li, Mohd A, Raihan, Francis Jeshira, Reynoso, Miao, He   +3 more
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Congenital Disorder of Glycosylation

Advances in Neonatal Care, 2012
Congenital disorders of glycosylation (CDG) are a group of rare genetically inherited disorders that involve the malfunction of attaching sugar molecules to lipids, proteins, or other organic molecules through an enzymatic process. The resulting defect in glycoprotein and glycolipid synthesis often has a heterogeneous range of multisystemic effects ...
Timothy M, Snow, Christopher W, Woods, Amanda G, Woods   +2 more
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Cardiomyopathy in congenital disorders of glycosylation

Cardiology in the Young, 2003
Congenital disorders of glycosylation are a group of inherited metabolic multisystem disorders characterized by defects in the glycosylation of proteins and lipids. In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder.From the literature, we identified six children ...
Josef, Gehrmann, Kristina, Sohlbach, Michael, Linnebank, Hans-Josef, Böhles, Stephan, Buderus, Hans Gerd, Kehl, Johannes, Vogt, Erik, Harms, Thorsten, Marquardt   +8 more
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Congenital Disorders of Glycosylation

Annals of the New York Academy of Sciences, 2006
Congenital (genetic) disorders of glycosylation (CDG) are a rapidly growing disease family, with some 45 members reported since its first clinical description in 1980. Most of these are protein hypoglycosylation diseases, but recently three defects in lipid glycosylation have been identified.
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Congenital Disorders of Glycosylation

2016
Congenital disorders of glycosylation (CDGs) are usually diagnosed during infancy or childhood with severe multisystem disorder and neurologic presentation. With the increasing number of surviving adult patients, recognition of the distinct adult phenotype and awareness of the diagnostic difficulties in adulthood is essential.
Eva Morava, Mirian C. H. Janssen
  +4 more sources

Congenital disorders of glycosylation

Trends in Biochemical Sciences, 2000
Six different gene defects causing carbohydrate-deficient glycoprotein syndromes are already known, and a plethora of similar defects will eventually be identified. A simple nomenclature for this family of diseases is highly desirable, and specialists in this field discussed nomenclature at the ‘First International Workshop on Carbohydrate-Deficient ...
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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement [PDF]

Journal of Pediatrics, 2011
Contains fulltext : 96665.pdf (Publisher’s version ) (Open Access)The clinical phenotype of congenital disorders of glycosylation is heterogeneous, mostly including a severe neurological involvement and multisystem disease.
Ron Wevers
exaly   +2 more sources

Congenital Disorders of Glycosylation and the Pediatric Liver

Seminars in Liver Disease, 2001
Congenital disorders of glycosylation (CDG) are caused by defects in protein N-glycosylation. These inherited disorders impact multiple organ systems, including the liver, its glycoprotein products, and the gastrointestinal system. Many patients have hypotonia, psychomotor retardation, developmental delay, and failure to thrive.
Hudson Freeze
exaly   +3 more sources

Mouse models for congenital disorders of glycosylation

Journal of Inherited Metabolic Disease, 2011
AbstractGlycoprotein biosynthesis describes the process of co‐ and posttranslational attachment of sugar chains to proteins, a process that has been found in nearly all known organisms. Human deficiencies evoked by mutations in the glycosylation pathway of glycoproteins lead to congenital disorders of glycosylation (CDG), a rapidly expanding group of ...
Christian, Thiel, Christian, Körner
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[Congenital disorders of glycosylation].

Annales pharmaceutiques francaises, 2003
Congenital disorders of glycosylation (CDG) is a fast growing group of autosomal recessive inherited diseases caused by defects in glycosylation. The biosynthesis of the glycans is a pathways which occurs in the endoplasmic reticulum and Golgi complex thanks to highly specific enzymes: glycosidases and glycosyltransferases.
G, Durand, Th, Dupré, S, Vuillaumier-Barrot, N, Seta   +3 more
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