1.
J Pediatr
; 136(5): 691-5, 2000 May.
Article
in English
| MEDLINE
| ID: mdl-10802506
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.