Results 11 to 20 of about 166,041,693 (206)
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
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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
openaire +3 more sources
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.
openaire +4 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
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Congenital Disorders of Glycosylation
, 2022 Item does not contain ...
Lefeber DJ +3 more
europepmc +8 more sources
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
core +3 more sources
Congenital protein hypoglycosylation diseases
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
Hemostatic defects in congenital disorders of glycosylation [PDF]
Research and Practice in Thrombosis and Haemostasis, 2023 Borgel D, Tiffany Pascreau
exaly +2 more sources
Congenital disorders of glycosylation [PDF]
Annals of Translational Medicine, 2018 Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms ...
Irene J, Chang +2 more
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Causes of mortality in the congenital disorders of glycosylation. [PDF]
Mol Genet MetabCongenital Disorders of Glycosylation (CDG) are a group of some 200 genetic disorders with PMM2-CDG being the most common disease. These disorders individually remain rare with poorly understood natural history (NH) and causes of mortality. We established a NH study for CDG and collected both prospective and retrospective data on CDG outcomes.
Alharbi H +7 more
europepmc +3 more sources