scholarly journals Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

2015 ◽  
pp. 93-99 ◽  
Author(s):  
Agata Fiumara ◽  
Rita Barone ◽  
Giuliana Del Campo ◽  
Pasquale Striano ◽  
Jaak Jaeken
Keyword(s):  
Early Onset ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Epileptic Encephalopathies

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG)

2017 ◽  
Vol 39 (4) ◽  
pp. 366-367 ◽  
Author(s):  
Agata Fiumara ◽  
Rita Barone ◽  
Giuliana Del Campo ◽  
Pasquale Striano ◽  
Jaak Jaeken
Keyword(s):  
Early Onset ◽  
Epileptic Encephalopathy ◽  
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

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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