Results 81 to 90 of about 2,105 (164)

Congenital Disorder of Glycosylation (CDG) - Ih [PDF]

, 2022
openaire   +1 more source

Normal transferrin glycosylation does not rule out severe ALG1 deficiency

JIMD Reports
ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaired N‐glycosylation of ...
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava   +4 more
doaj   +1 more source

Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG

Biomolecules
SLC35A2-CDG is a congenital disorder of glycosylation caused by mutations in the SLC35A2 gene encoding a Golgi-localized UDP-galactose transporter. This transporter plays an essential role in glycan synthesis by transporting UDP-galactose from the cytoplasm into the Golgi lumen. Its dysfunction leads to impaired galactose-containing glycans and various
Kazuyoshi Itoh, Masaki Kurogochi, Tadashi Kaname, Jun-ichi Furukawa, Shoko Nishihara   +4 more
openaire   +2 more sources

Study of hemostasis and endothelium in congenital disorder of glycosylation (CDG)

, 2019
The aim of this study was to evaluate the role of N-glycosylations on hemostasis, both on coagulation proteins and on the endothelium. In order to study the role of glycan chains on hemostasis in a global system, we were interested in congenital disorder of glycosylation (CDG).
openaire   +2 more sources

Congenital disorder of glycosylation Ib (CDG-Ib)

, 2005
Congenital Disorders of Glycosylation (CDG) sind eine Gruppe hereditärer Störungen der N-Glykosylierung. Gemeinsames Charakteristikum dieser Multisystemerkrankungen ist eine psychomotorische Retardierung. Eine Ausnahme bildet das im Rahmen dieser Arbeit entdeckte CDG-Ib. Hauptmerkmal dieser rezessiv vererbten Erkrankung ist eine exsudative Enteropathie.
openaire  

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community. [PDF]

Orphanet J Rare Dis
Granjo P, Pascoal C, Gallego D, Francisco R, Jaeken J, Moors T, Edmondson AC, Kantautas KA, Serrano M, Videira PA, Dos Reis Ferreira V.   +10 more
europepmc   +1 more source

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS). [PDF]

Orphanet J Rare Dis
Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V.   +3 more
europepmc   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source

Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation. [PDF]

J Biol Chem
Nilsson J, Mirgorodskaya E, Wallem CS, Noborn F, Eklund EA, Larson G, Blomqvist M.   +6 more
europepmc   +1 more source

B4GALT1-related congenital disorder of glycosylation mimicking Ehlers-Danlos syndrome: a child with multisystem involvement and nephrotic syndrome. [PDF]

Clin Exp Pediatr
Ganieva M, Boltaboeva M, Ganiyeva U, Efimenko O, Haydarov A, Toshboev S.   +5 more
europepmc   +1 more source