Congenital disorders of glycosylation cdg

Results 121 to 130 of about 3,750 (209)

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 +4 more
doaj +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 +5 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

Development and prevention of disease states caused by endoplasmic reticulum stress [PDF]

, 2012
科学研究費助成事業(科学研究費補助金)研究成果報告書：挑戦的萌芽研究 2009-2011 課題番号：21659043research ...
小林麻己人
core

105 ALG6-CDG- congenital disorder of glycosylation with recognizable phenotype [PDF]