Results 151 to 160 of about 7,542 (179)

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

Journal of Thrombosis and Haemostasis, 2019
Me De La Morena-Barrio, Arnaud Bruneel, Manoëlle Kossorotoff   +2 more
exaly  

RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE

Pediatric Hematology and Oncology, 2008
W A Kamps, F J Van Spronsen
exaly  

Analysis of Multiple Mutations in the hALG6 Gene in a Patient with Congenital Disorder of Glycosylation Ic

Molecular Genetics and Metabolism, 2000
Hudson Freeze, Thorsten Marquardt, Vibeke Westphal   +2 more
exaly  

Congenital Disorders of Glycosylation

2008
Christian Körner, Jürgen Lübbehusen, Christian Thiel   +2 more
openaire   +1 more source

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

European Journal of Pediatrics, 2002
Hans Gerd Kehl, Thorsten Marquardt, Marquardt Thorsten   +2 more
exaly  

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Journal of the Neurological Sciences, 2017
Marcelo Merello, Lucia Ameghino, Malco Rossi   +2 more
exaly  

Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)

Ophthalmic Genetics, 2018
Arif Khan
exaly  

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I

Glycobiology, 2003
Gert Matthijs, Nico Callewaert, Roland Contreras   +2 more
exaly  

Congenital Disorders of N-linked Glycosylation

2015
openaire   +1 more source

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

Molecular Genetics and Metabolism, 2008
Nathalie Seta, Nathalie Boddaert, P De Lonlay   +2 more
exaly