Results 121 to 130 of about 3,013 (227)

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

, 2022
openaire   +1 more source

A Study on Glycosylation pattern of Serum Transferrin in patients with clinically suspected Congenital Glycosylation disorders [PDF]

, 2017
INTRODUCTION: Congenital disorder of glycosylation (CDG) is an inborn error of metabolism due to defective glycosylation of glycoproteins/glycolipids. It is a multisystem disorder with wide range of clinical presentations.
Preethi, A
core  

GDP-L-fucose : synthesis and role in inflammation [PDF]

, 2007
GDP-L-fucose: synthesis and role in inflammation The migration of leukocytes from intravascular locations to extravascular sites is essential to the immune responses.
Niittymäki, Jaana
core  

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG

Scientific Reports
Phosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, Fabio Pettinato, Alessandro Barbato, Alfio Distefano, Enrico La Spina, Giuseppe Lazzarino, Giovanni Li Volti, Lucia Longhitano, Daniele Tibullo, Alessandra Pittalà, Cesarina Giallongo, Valentina Di Pietro, Giovanni Tabbi, Salvatore Antonio Longo, Andrea Graziani, Barbara Tavazzi, Angela Maria Amorini, Giacomo Lazzarino, Rita Barone   +20 more
doaj   +1 more source

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  

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  

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

Abstracts, 2021
Marina Kokić Golub, Tamara Žigman, Danijela Petković Ramadža, Maja Jurin, Duška Tješić Drinković, Stanko Ćavar, Sanja Džida, Jelena Nikolić, Andrija Miculinić, Ernest Bilić, Ksenija Fumić, Ivo Barić   +11 more
openaire   +1 more source

A complement C4–derived glycopeptide is a biomarker for PMM2-CDG

JCI Insight
BACKGROUND Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age.
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, Jinyong Kim, Neha Joshi, Gunveen S. Sachdeva, Anu Jain, Anna N. Ligezka, Silvia Radenkovic, Madan Gopal Ramarajan, Savita Udainiya, Kimiyo Raymond, Miao He, Christina Lam, Austin Larson, Andrew C. Edmondson, Kyriakie Sarafoglou, Nicholas B. Larson, Hudson H. Freeze, Matthew J. Schultz, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +22 more
doaj   +1 more source

FSH isoform pattern in classic galactosemia [PDF]

, 2010
Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo   +6 more
core   +1 more source

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins. [PDF]

Cureus
Swaroop S, Dasgupta S, Srivastava P, Jain SD, Nag DS, Tanti SK.   +5 more
europepmc   +1 more source