scholarly journals Disposable Passive Electrochemical Microfluidic Device for Diagnosis of Congenital Disorders of Glycosylation

2021 ◽  
Author(s):  
Tania Sierra ◽  
Charles S. Henry ◽  
Agustín G. Crevillén ◽  
Alberto Escarpa
Keyword(s):  
Microfluidic Device ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

scholarly journals Congenital disorders of glycosylation in children - histopathological and ultrastructural changes in the liver

2021 ◽  
Author(s):  
Patryk Lipiński ◽  
Joanna Cielecka-Kuszyk ◽  
Elżbieta Czarnowska ◽  
Anna Bogdańska ◽  
Piotr Socha ◽  
...  
Keyword(s):  
Ultrastructural Changes ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

Capillary zone electrophoresis of transferrin and EDTA samples in congenital disorders of glycosylation screening: CaNOt do, really?

2021 ◽  
Vol 519 ◽  
pp. 92-93
Author(s):  
Alexandre Raynor ◽  
Célia Raulet-Bussian ◽  
Léa Verel ◽  
Grégory Plouviez ◽  
Arnaud Bruneel
Keyword(s):  
Capillary Zone Electrophoresis ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Zone Electrophoresis ◽  
Capillary Zone

Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!

2021 ◽  
Author(s):  
Alexandre Raynor ◽  
Catherine Vincent-Delorme ◽  
Anne-Sophie Alaix ◽  
Sophie Cholet ◽  
Thierry Dupré ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Apolipoprotein C

Clinical cases about uncommon genotype of congenital disorders of glycosylation

2017 ◽  
Vol 21 ◽  
pp. e139-e140
Author(s):  
R. Calvo Medina ◽  
A. Calvo-Cillan ◽  
M. Sanchez Muñoz ◽  
M. mantecon Barranco ◽  
M.A. Aviles-tirado ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Clinical Cases
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