Budd-Chiari syndrome associated with coagulation abormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix

2000 ◽  
Vol 136 (5) ◽  
pp. 691-695 ◽  
Author(s):  
Martina Huemer ◽  
Wolf-Dietrich Huber ◽  
Wolfgang Schima ◽  
Dorothea Moeslinger ◽  
Ulrike Holzbach ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Budd Chiari Syndrome ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Chiari Syndrome

Immunoglobulin Levels in Patients with Carbohydrate-Deficient Glycoprotein Syndrome Type I

1997 ◽  
Vol 114 (2) ◽  
pp. 116-119 ◽  
Author(s):  
J.E.M. Björklund ◽  
H. Stibler ◽  
B. Kristiansson ◽  
S.G.O. Johansson ◽  
C.G.M. Magnusson
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Immunoglobulin Levels

Carbohydrate-deficient glycoprotein syndrome type 2

1999 ◽  
Vol 22 (2) ◽  
pp. 192-193 ◽  
Author(s):  
H. Engelhardt ◽  
M. Staudt ◽  
A. Hässler ◽  
U. Holzbach ◽  
P. Freisinger ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

Genomics ◽  
1996 ◽  
Vol 35 (3) ◽  
pp. 597-599 ◽  
Author(s):  
Gert Matthijs ◽  
Eric Legius ◽  
Els Schollen ◽  
Petra Vandenberk ◽  
Jaak Jaeken ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Type I ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

Intestinal, Pancreatic and Hepatic Involvement in Carbohydrate-Deficient Glycoprotein Syndrome Type I

1998 ◽  
Vol 27 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Bengt Kristianson ◽  
Stefan Borulf ◽  
Nils Conradi ◽  
Charlotte Erlanson-Albertsson ◽  
Walter Ryd ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Hepatic Involvement ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1

1999 ◽  
Vol 29 (3) ◽  
pp. 194-198 ◽  
Author(s):  
Hanane Antoun ◽  
Nathalie Villeneuve ◽  
Antoinette Gelot ◽  
Sophie Panisset ◽  
Catherine Adamsbaum
Keyword(s):  
Cerebellar Atrophy ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome

scholarly journals Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

FEBS Letters ◽  
1999 ◽  
Vol 452 (3) ◽  
pp. 319-322 ◽  
Author(s):  
Michel Pirard ◽  
Gert Matthijs ◽  
Leen Heykants ◽  
Els Schollen ◽  
Stephanie Grünewald ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome ◽  
Type Ia ◽  
Phosphomannomutase 2
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