Results 171 to 180 of about 3,636 (221)

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +1 more source

A CASE WITH RARE TYPE OF CONGENITAL DISORDER OF GLYCOSYLATION: PGM1-CDG

, 2015
Küçükçongar, A., Tümer, L., Ezgü, F. Süheyl, Kasapkara, Ç. Seher, Jaeken, Jaak, Matthijs, Gert, Rymen, Daisy, Dalgiç, B., Bıdecı, A., Hasanoğlu, A.   +9 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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Immunological aspects of congenital disorders of glycosylation (CDG): a review

Journal of Inherited Metabolic Disease, 2016
AbstractCongenital 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, Ferro, Tiago, Jaeken, Jaak, Dos Reis Ferreira, Vanessa, Videira, Paula A   +4 more
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Human Genetics, 2000
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with variable clinical presentations. Common to all types of CDG characterized to date is a defective Asn-linked glycosylation caused by enzymatic defects of N-glycan synthesis.
Imbach, T., Grunewald, S., Schenk, B., Burda, P., Schollen, E., Wevers, R.A., Jaeken, J., Klerk, J.B.C. de, Berger, E.G., Matthijs, G., Aebi, M., Hennet, T.   +11 more
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Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond

Current Molecular Medicine, 2007
The 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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Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG

Journal of Inherited Metabolic Disease, 2013
AbstractThe 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, Ruth J, Lyons, Isabelle, Russell-Eggitt, Alki, Liasis, Herbert, Jägle, Stephanie, Grünewald   +5 more
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Mass spectrometry for congenital disorders of glycosylation, CDG

Journal of Chromatography B, 2006
Congenital 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 ...
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Congenital disorder of glycosylation Ib (CDG‐Ib) without gastrointestinal symptoms

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: We report a 7‐year‐old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.
D, Penel-Capelle, D, Dobbelaere, J, Jaeken, A, Klein, M, Cartigny, J, Weill   +5 more
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