Results 181 to 190 of about 15,514 (222)

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
openaire   +2 more sources

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 ...
openaire   +2 more sources

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.
openaire   +1 more source

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
openaire   +3 more sources

Diversity of congenital disorders of glycosylation

The Lancet, 2001
J, Leonard, S, Grünewald, P, Clayton
openaire   +2 more sources

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

EMBO Molecular Medicine, 2021
René G Feichtinger, Andreas Koller, Erdmann Rapp   +2 more
exaly  

Congenital Disorders of Glycosylation

2021
Paulina Sosicka, Bobby G. Ng, Hudson H. Freeze   +2 more
openaire   +1 more source

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain, 2020
Monica Zilmer, Andrew C Edmondson, Viola Alesi   +2 more
exaly  

Congenital Disorder of Glycosylation

2023
Sara Momtazmanesh, Nima Rezaei
openaire   +1 more source

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
exaly