Literature DB >> 10802506

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.

M Huemer1, W D Huber, W Schima, D Moeslinger, U Holzbach, R Wevers, H Wank, S Stoeckler-Ipsiroglu.   

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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Year:  2000        PMID: 10802506     DOI: 10.1067/mpd.2000.105130

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  2 in total

1.  Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Authors:  Jaak Jaeken; Dirk Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2015-02-04       Impact factor: 4.246

2.  Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

  2 in total

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