cdg syndrome
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scholarly journals Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

2020 ◽  
Vol 11 ◽  
Author(s):  
Katerina Slaba ◽  
Hana Noskova ◽  
Petra Vesela ◽  
Jana Tuckova ◽  
Hana Jicinska ◽  
...  
Keyword(s):  
Case Report ◽  
Pericardial Effusion ◽  
Splicing Variant ◽  
Cdg Syndrome

scholarly journals ALG11‐CDG syndrome: Expanding the phenotype

2019 ◽  
Vol 179 (3) ◽  
pp. 498-502
Author(s):  
Maria K. Haanpää ◽  
Bobby G. Ng ◽  
Natalie M. Gallant ◽  
Kathryn E. Singh ◽  
Candida Brown ◽  
...  
Keyword(s):  
Cdg Syndrome

Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome

2018 ◽  
Vol 76 (2) ◽  
pp. 217-223
Author(s):  
Bertrand Lefrère ◽  
Alain Stepanian ◽  
Nathalie Itzhar-Baïkian ◽  
Perrine Charles ◽  
Arezki Hadj-Ali ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Young Patient ◽  
Type Ia ◽  
Cdg Syndrome

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy

2016 ◽  
Vol 18 (1) ◽  
pp. 92-96 ◽  
Author(s):  
Alec Aeby ◽  
Cynthia Prigogine ◽  
Catheline Vilain ◽  
Geneviève Malfilatre ◽  
Jaak Jaeken ◽  
...  
Keyword(s):  
Early Onset ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Severe Epilepsy ◽  
Cdg Syndrome

P17.1 Tonic seizures in a novel case of RFT1-CDG syndrome

2011 ◽  
Vol 15 ◽  
pp. S99
Author(s):  
A. Eeby ◽  
C. Vilain ◽  
S. Vandeneijnden ◽  
J. Jaeken ◽  
P. van Bogaert
Keyword(s):  
Cdg Syndrome

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)

2010 ◽  
Vol 33 (S3) ◽  
pp. 497-502 ◽  
Author(s):  
A. Sebastian Schroeder ◽  
Matthias Kappler ◽  
Michaela Bonfert ◽  
Ingo Borggraefe ◽  
Carola Schoen ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Cdg Syndrome

scholarly journals The carbohydrate moiety of human glycophorin in CDG syndrome.

1999 ◽  
Vol 46 (2) ◽  
pp. 371-376
Author(s):  
B Krotkiewska ◽  
K Zwierz ◽  
H Krotkiewski
Keyword(s):  
Carbohydrate Content ◽  
Carbohydrate Moiety ◽  
Erythrocyte Membranes ◽  
Healthy Individuals ◽  
Disease Reaction ◽  
Sugar Analysis ◽  
Health And Disease ◽  
Human Glycophorin ◽  
Cdg Syndrome

Human glycophorin, the major sialoglycoprotein of erythrocyte membranes, was isolated from erythrocytes of healthy individuals and four patients with CDG syndrome. Sugar analysis revealed lower carbohydrate content in three out of four CDG-glycophorin samples. In order to characterize closer the glycosylation differences between glycophorin samples in health and disease, reaction with four biotinylated lectins was performed, using ELISA procedure on polystyrene microplates. Results obtained so far strongly suggest that both N- and O-glycans of glycophorin are affected in CDG syndrome.

scholarly journals Phosphomannose Isomerase Deficiency: a novel, potentially treatable CDG syndrome variant • 709

1998 ◽  
Vol 43 ◽  
pp. 123-123
Author(s):  
C Dionisi-Vici ◽  
A Bartuli ◽  
E Bertini ◽  
H Carchon ◽  
H Henry ◽  
...  
Keyword(s):  
Phosphomannose Isomerase ◽  
Cdg Syndrome

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

1998 ◽  
Vol 2 (5) ◽  
pp. 239-244 ◽  
Author(s):  
Edvige Veneselli ◽  
Roberta Biancheri ◽  
Maja Dl Rocco ◽  
Silvia Tortorelli
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Cdg Syndrome
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