A CASE WITH RARE TYPE OF CONGENITAL DISORDER OF GLYCOSYLATION: PGM1-CDG
, 2015 Küçükçongar, A. +9 more
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The TRAP complex (SSR1-SSR4): mechanistic roles and therapeutic opportunities. [PDF]
Ann MedZhang J, Wan X, Gong A.
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Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]
Am J Case RepAl-Ahmari AA.
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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 Ghesquière
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Mass spectrometry for congenital disorders of glycosylation, CDG
Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 2006Congenital disorders of glycosylation (CDG) constitute a group of diseases affecting N-linked glycosylation pathways. The classical type of CDG, now called CDG-I, results from deficiencies in the early glycosylation pathway for biosynthesis of lipid-linked oligosaccharide and its transfer to proteins in endoplasmic reticulum, while the CDG-II diseases ...
Yoshinao Wada
exaly +3 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 +1 more
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Congenital Disorders of Glycosylation (CDG) – CDG-Krankheiten
2014»Congenital disorders of glycosylation« (CDG; angeborene Glykosylierungskrankheiten) umfassen eine Gruppe von Stoffwechselkrankheiten, die durch eine fehlerhafte Glykosylierung von Proteinen oder Lipiden entstehen.
L. Tegtmeyer, T. Marquardt
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Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG
Journal of Inherited Metabolic Disease, 2013AbstractThe congenital disorder of glycosylation, PMM2‐CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2‐CDG, who showed preserved photoreceptor function, but profound deficits of the ‘on‐pathway’ in the retina. This localises the site of early,
Dorothy A, Thompson +5 more
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Immunological aspects of congenital disorders of glycosylation (CDG): a review
Journal of Inherited Metabolic Disease, 2016AbstractCongenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi‐organ/system to mono‐organ/system involvement with very mild to extremely severe expression. Immunological dysfunction has a significant impact
Monticelli, Maria +4 more
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Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond
Current Molecular Medicine, 2007The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the ...
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