Results 81 to 90 of about 2,044 (163)

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

, 2022
openaire   +1 more source

PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome

Heliyon
Glycosylation is the most common protein and lipid post-translational modification in humans. Congenital disorders of glycosylation (CDG) are characterized by both genetic and clinical heterogeneity, presenting multisystemic manifestations, and in most ...
Lyvia Neves Rebello Alves, Lívia Valle dos Santos Silveira, Raquel Silva dos Reis Trabach, Débora Dummer Meira, Eldamária de Vargas Wolfgramm dos Santos, Iúri Drumond Louro   +5 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

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

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  

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

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

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]

Front Neurol
Granger K, Do C, Quindipan C, Schmidt R, Borchert MS, Nagiel A, Chang MY.   +6 more
europepmc   +1 more source

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]

Mol Genet Metab
Sarafoglou K, Lam C, Edmondson AC, Miller A, Starosta RT, Zeighami A, Horikoshi S, Vreugdenhil H, Scaglia F, Kozicz T, Tan QKG, Miller BS, Martínez-Duncker I, Berry GT, McWilliams P, Morava E, Addo Y.   +16 more
europepmc   +1 more source