title: Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.
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.
authors.affiliation: Department of Pediatrics and the Department of Radiology, University of Vienna, Vienna, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Huemer
authors.forename: W D
authors.initials: WD
authors.lastname: Huber
authors.forename: W
authors.initials: W
authors.lastname: Schima
authors.forename: D
authors.initials: D
authors.lastname: Moeslinger
authors.forename: U
authors.initials: U
authors.lastname: Holzbach
authors.forename: R
authors.initials: R
authors.lastname: Wevers
authors.forename: H
authors.initials: H
authors.lastname: Wank
authors.forename: S
authors.initials: S
authors.lastname: Stoeckler-Ipsiroglu
mesh_terms: D015153:Blotting, Western; D006502:Budd-Chiari Syndrome / Q000209:etiology* / Q000601:surgery; D002648:Child; D020147:Coagulation Protein Disorders / Q000150:complications* / Q000209:etiology*; D018981:Congenital Disorders of Glycosylation / Q000097:blood / Q000145:classification / Q000150:complications* / Q000235:genetics; D003241:Consanguinity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008359:Mannose-6-Phosphate Isomerase / Q000378:metabolism; D010733:Phosphoglucomutase / Q000378:metabolism; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism; D019168:Portasystemic Shunt, Transjugular Intrahepatic; D014168:Transferrin / Q000378:metabolism
chemical_list: D014168:Transferrin; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); D010733:Phosphoglucomutase; C052799:phosphomannomutase