Results 11 to 20 of about 11,049 (200)
Congenital Disorders of Glycosylation [PDF]
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
openaire +3 more sources
Congenital disorders of glycosylation [PDF]
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.
openaire +4 more sources
Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia [PDF]
Case Reports in Ophthalmology, 2012 Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
Bob Z. Wang +2 more
doaj +3 more sources
Congenital disorders of glycosylation with defective fucosylation [PDF]
Journal of Inherited Metabolic Disease, 2021 AbstractFucosylation is essential for intercellular and intracellular recognition, cell‐cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8‐CDG, FCSK‐CDG, POFUT1‐CDG SLC35C1‐CDG, and the only recently described ...
Hüllen, A. +21 more
core +8 more sources
Congenital disorders of glycosylation [PDF]
, 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
core +3 more sources
Insights into complexity of congenital disorders of glycosylation [PDF]
Biochemia Medica, 2012 Biochemical and biological properties of glycoconjugates are strongly determined by the specific structure of its glycan parts. Glycosylation, the covalent attachment of sugars to proteins and lipids, is very complex and highly-coordinated process involving > 250 gene products.
Supraha Goreta, Sandra +2 more
openaire +7 more sources
Epileptic spasms in congenital disorders of glycosylation [PDF]
Epileptic Disorders, 2017 AbstractAim. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is
Pereira, AG +7 more
openaire +5 more sources
Congenital Disorders of Glycosylation [PDF]
, 2022 Item does not contain ...
Lefeber DJ +3 more
europepmc +9 more sources
Congenital protein hypoglycosylation diseases [PDF]
The Application of Clinical Genetics, 2012 Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: Glycosylation is an ...
Sparks SE
doaj +1 more source
Our Experience with Diagnostics of Congenital Disorders of Glycosylation [PDF]
Acta Medica, 2004 The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and α1-antitrypsin, apart from ...
Ziad Albahri +8 more
doaj +2 more sources