Results 91 to 100 of about 7,146 (119)

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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Neurologic Course of Congenital Disorders of Glycosylation

Journal Of Child Neurology, 2001
Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy.
P L, Pearl, D, Krasnewich
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Neurological Consequences of Congenital Disorders of Glycosylation

2022
The chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG). At the beginning, the various types of CDG with neurological presentation of symptoms are summarized. Then, the occurrence of various neurological constellation of abnormalities (for example: epilepsy, brain anomalies on neuroimaging, ataxia, stroke-like ...
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Congenital Disorders of Glycosylation, Analytical Aspects

2014
Molecular diagnosis of congenital disorders of glycosylation (CDG) has long relied on electrophoresis (isoelectric focusing) performed to detect the absence of N-acetylneuraminic acid, a marker saccharide of mature oligosaccharides, in serotransferrin.
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