Results 171 to 180 of about 166,041,693 (206)

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

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) [PDF]

Nutrients, 2017
Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation.
Eva Morava, David Cassiman, Peter Witters   +2 more
exaly   +2 more sources

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.
openaire   +3 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 ...
openaire   +2 more sources

Update and perspectives on congenital disorders of glycosylation [PDF]

Glycobiology, 2001
Defects in nine genes of the N-linked glycosylation pathway cause congenital disorders of glycosylation (CDGs) and serious medical consequences. Although glycobiology is seldom featured in a general medical education, an increasing number of physicians are becoming acquainted with the field because it directly impacts patient diagnosis and care ...
Hudson Freeze
exaly   +3 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

Congenital disorders of glycosylation and intellectual disability

Developmental Disabilities Research Reviews, 2013
The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post‐translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation.
Lynne A, Wolfe, Donna, Krasnewich
openaire   +2 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
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].

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
openaire   +1 more source