Results 121 to 130 of about 2,044 (163)

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Novel <i>SSR4</i> gene splice variant leads to congenital disorder of glycosylation, type Iy. [PDF]

Front Pediatr
Li N, Chen C.
europepmc   +1 more source

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Mass spectrometry for congenital disorders of glycosylation, CDG

Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 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 ...
Yoshinao Wada
exaly   +3 more sources

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Journal of Inherited Metabolic Disease, 2011
AbstractCongenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled ‘Congenital disorders of glycosylation CDG): It's all in it!’.
Jaak Jaeken
exaly   +3 more sources

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
openaire   +1 more source

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
openaire   +3 more sources

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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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 ...
openaire   +2 more sources

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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