Results 121 to 130 of about 9,755 (171)

Diversity of congenital disorders of glycosylation

The Lancet, 2001
J, Leonard, S, Grünewald, P, Clayton
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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

American Journal of Medical Genetics Part A, 2020
AbstractCongenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a ...
Emily M. Bryant, John J. Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria Sanders, Gemma L. Carvill, Joel Charrow   +9 more
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Congenital Disorders of Glycosylation

Annual Review of Genomics and Human Genetics, 2001
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement.
J, Jaeken, G, Matthijs
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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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