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

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

Carbohydrate-Deficient Glycoprotein (CDG) Syndrome - A New Variant, Type III

1993 ◽  
Vol 24 (01) ◽  
pp. 51-52 ◽  
Author(s):  
H. Stibler ◽  
B. Westerberg ◽  
F. Hanefeld ◽  
B. Hagberg
Keyword(s):  
Type Iii ◽  
Variant Type ◽  
New Variant ◽  
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

scholarly journals Carbohydrate deficient glycoprotein (CDG) syndrome type I.

1997 ◽  
Vol 34 (1) ◽  
pp. 73-76 ◽  
Author(s):  
J Jaeken ◽  
G Matthijs ◽  
R Barone ◽  
H Carchon
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Cdg Syndrome

Thrombophilia in a Child with CDG-Syndrome Type I

1995 ◽  
Vol 74 (04) ◽  
pp. 1199-1200 ◽  
Author(s):  
M Funk ◽  
S Becker ◽  
B Pötzsch ◽  
W Kreuz ◽  
H Böhles
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Cdg Syndrome

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

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

Familial Dandy-Walker variant in CDG syndrome

1996 ◽  
Vol 63 (2) ◽  
pp. 412-412 ◽  
Author(s):  
Agata Fiumara ◽  
Rita Barone ◽  
Francesco Nigro ◽  
Giovanni Sorge ◽  
Lorenzo Pavone
Keyword(s):  
Cdg Syndrome
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