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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.


Subject(s)
Budd-Chiari Syndrome/etiology , Coagulation Protein Disorders/complications , Coagulation Protein Disorders/etiology , Congenital Disorders of Glycosylation/complications , Blotting, Western , Budd-Chiari Syndrome/surgery , Child , Congenital Disorders of Glycosylation/blood , Congenital Disorders of Glycosylation/classification , Congenital Disorders of Glycosylation/genetics , Consanguinity , Humans , Intellectual Disability/genetics , Male , Mannose-6-Phosphate Isomerase/metabolism , Phosphoglucomutase/metabolism , Phosphotransferases (Phosphomutases)/metabolism , Portasystemic Shunt, Transjugular Intrahepatic , Transferrin/metabolism
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