Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

2003 ◽  
Vol 34 (1) ◽  
pp. 1-6 ◽  
Author(s):  
E. Miossec-Chauvet ◽  
Y. Mikaeloff ◽  
D. Heron ◽  
V. Merzoug ◽  
V. Cormier-Daire ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Type Ia ◽  
Neurological Presentation

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

2000 ◽  
Vol 16 (5) ◽  
pp. 386-394 ◽  
Author(s):  
G. Matthijs ◽  
E. Schollen ◽  
C. Bjursell ◽  
A. Erlandson ◽  
H. Freeze ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Type Ia

The first case of congenital disorders of glycosylation type Ia in Russia

2008 ◽  
Vol 12 ◽  
pp. S48
Author(s):  
S. Mikhaylova ◽  
E. Zakharova ◽  
P. Tsygankova ◽  
E. Ilina ◽  
A. Petrukhin
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
First Case ◽  
Type Ia

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications

2001 ◽  
Vol 24 (4) ◽  
pp. 477-492 ◽  
Author(s):  
C. Van Geet ◽  
J. Jaeken ◽  
K. Freson ◽  
T. Lenaerts ◽  
J. Arnout ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Type Ia

Underdiagnosis of mild congenital disorders of glycosylation type Ia

2005 ◽  
Vol 32 (2) ◽  
pp. 121-123 ◽  
Author(s):  
Irina Giurgea ◽  
Anne Michel ◽  
Martine Le Merrer ◽  
Nathalie Seta ◽  
Pascale de Lonlay
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Type Ia

scholarly journals Congenital disorders of glycosylation type Ia as a cause of mirror syndrome

2007 ◽  
Vol 27 (12) ◽  
pp. 802-804 ◽  
Author(s):  
D Wurm ◽  
G Löffler ◽  
A Lindinger ◽  
L Gortner
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Type Ia
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