Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix |
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Authors: | Huemer M Huber W D Schima W Moeslinger D Holzbach U Wevers R Wank H Stoeckler-Ipsiroglu S |
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Affiliation: | Department of Pediatrics and the Department of Radiology, University of Vienna, Vienna, Austria. |
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Abstract: | A 6-year-old male patient presented with Budd-Chiari syndrome and glycoprotein abnormalities associated with carbohydrate deficient glycoprotein syndrome type I with yet unidentified molecular defect (type Ix). Budd-Chiari syndrome most likely developed after hepatic venous thrombosis caused by coagulation abnormalities resulting from hypoglycosylation and functional impairment of anticoagulant proteins. |
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