scholarly journals Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation

2021 ◽  
Vol 122 (03) ◽  
pp. 190-195
Author(s):  
D. E. Lekka ◽  
J. Brucknerova ◽  
A. Salingova ◽  
C. Sebova ◽  
M. Ostrozlikova ◽  
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Keyword(s):  
Metabolic Disorders ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Physical Investigation

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 ◽  
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Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
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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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