Results 1 to 10 of about 2,044 (163)
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. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group.
Eva Morava +2 more
exaly +5 more sources
Congenital disorders of glycosylation (CDG): state of the art in 2022 [PDF]
Orphanet Journal of Rare Diseases, 2023 Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and ...
Rita Francisco +6 more
doaj +5 more sources
Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review [PDF]
Orphanet Journal of Rare DiseasesGlycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human proteins.
N. Gandoy-Fieiras +2 more
doaj +5 more sources
Genetic counseling for congenital disorders of glycosylation (CDG) [PDF]
Journal of Genetic CounselingAbstractCongenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel
exaly +4 more sources
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG) [PDF]
International Journal of Molecular Sciences, 2022 Advances in research have boosted therapy development for congenital disorders of glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis. The (re)use of known drugs for novel medical purposes, known as drug repositioning, is growing for both common and rare ...
Carlota Pascoal +2 more
exaly +8 more sources
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update [PDF]
Genetics in Medicine, 2020 Congenital disorders of glycosylation (CDG) are a group of clinically and genetically heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG types are ultrarare disorders. CDG types affecting N-glycosylation are the most common type of CDG with emerging therapeutic possibilities.
Tamás Kozicz +2 more
exaly +6 more sources
Glycosphingolipids in congenital disorders of glycosylation (CDG)
Molecular Genetics and MetabolismCongenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the different glycosylation pathways. Defective glycosylation can affect any organ, with varying symptoms among the different CDG. Even between individuals with the same CDG there is quite variable severity.
Peter Witters, Bart Ghesquiere
exaly +4 more sources
Putative role of TMEM165 in congenital cardiomyopathies [PDF]
Frontiers in Molecular NeuroscienceWithin the significant worldwide causes of mortality and morbidity are congenital heart diseases. Congenital cardiomyopathies include conditions in which early diagnosis and care can improve survival and health.
Paula P. Gonçalves
doaj +2 more sources
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Journal of Rare Diseases, 2022 Abstract Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation.
Vanessa Dos Reis Ferreira +2 more
exaly +2 more sources
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients [PDF]
Orphanet Journal of Rare DiseasesBackground Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis.
Peiwei Zhao +8 more
doaj +2 more sources