Results 101 to 110 of about 9,667 (152)

Congenital Disorders of Glycosylation

Advances in Neonatal Care, 2012
Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body.
Amanda G, Woods, Christopher W, Woods, Timothy M, Snow   +2 more
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Congenital disorders of glycosylation

Current Opinion in Pediatrics, 2011
Congenital disorders of glycosylation (CDG) have grown enormously since the discovery of the first protein glycosylation defect in 1980, presenting with a broad clinical spectrum. Expansion in number and complexity of the CDG group has even necessitated a new nomenclature.
Theodore, M., Morava, E., Morava, E.
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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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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
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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

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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Congenital disorders of glycosylation

2017
Congenital disorders of glycosylation (CDG) comprise a family of multisystem diseases in which N- and O-linked glycosylation and glypiation of a variety of proteins and lipids is deficient. The hypoglycosylation of multiple glycoconjugates impairs normal development of the brain (and other organs), and is associated with both episodic and chronic organ
R. Ganetzky, F.J. Reynoso, M. He
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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].

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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