Results 181 to 190 of about 6,916 (192)

ALG11-CDG

2020
openaire   +1 more source

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Glycoconjugate Journal, 2019
Rita Barone, Emanuele Agolini, Francesca Esposito   +2 more
exaly  

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

American Journal of Human Genetics, 2019
Kyle M. Stiers, Lesa J Beamer, Christian Thiel   +2 more
exaly  

6-CDG

Drugs of the Future, 1980
J. Castañer, K. Hillier
openaire   +1 more source

Screening for OST deficiencies in unsolved CDG-I patients

Biochemical and Biophysical Research Communications, 2009
François Foulquier, Gert Matthijs, Els Schollen   +2 more
exaly  

CCDC115-CDG: A new rare and misleading inherited cause of liver disease

Molecular Genetics and Metabolism, 2018
François Fenaille, Arnaud Bruneel, Dominique Debray   +2 more
exaly  

Development of liver disease despite mannose treatment in two patients with CDG-Ib

Molecular Genetics and Metabolism, 2008
Nathalie Seta, F Jaubert, K Mention
exaly  

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients

Electrophoresis, 2018
François Foulquier, Romain Péanne, Gert Matthijs   +2 more
exaly  

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

Human Mutation, 2015
Celia Pérez-Cerdá, Alejandra Gamez, Belén Pérez   +2 more
exaly  

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG

Journal of Mass Spectrometry, 2017
Rita Barone, Carlo Dionisi-Vici, Rosaria Ornella Bua   +2 more
exaly