Results 191 to 197 of about 6,717 (197)

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  

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

Electrophoresis, 2018
François Foulquier, Eva Morava, François Foulquier   +2 more
exaly  

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

Molecular Genetics and Metabolism, 2008
Nathalie Seta, K Mention, V Valayannopoulos   +2 more
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Alejandra Gámez, Maria Belén Pérez Gonzalez, Jarl Underhaug   +2 more
exaly  

Glycosphingolipids in congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
Peter Witters, Bart Ghesquiere
exaly  

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Molecular Genetics and Metabolism
exaly  

CDG in Italy

2013
openaire   +1 more source