Results 131 to 140 of about 9,755 (171)

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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Biochemical diagnosis of congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism, comprising over 160 described diseases to this day. CDG are characterized by a dysfunctional glycosylation process, with molecular defects localized in the cytosol, the endoplasmic reticulum, or the Golgi apparatus.
Raynor, Alexandre, Haouari, Walid, Lebredonchel, Elodie, Foulquier, François, Fenaille, François, Bruneel, Arnaud   +5 more
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Congenital Disorders of Glycosylation

2021
Paulina Sosicka, Bobby G. Ng, Hudson H. Freeze   +2 more
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Congenital Disorder of Glycosylation

2023
Sara Momtazmanesh, Nima Rezaei
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Global view of human protein glycosylation pathways and functions

Nature Reviews Molecular Cell Biology, 2020
Katrine T Schjoldager, Yoshiki Narimatsu, Hiren J Joshi   +2 more
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