Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

Journal of Pediatrics

Volumn 136, Issue 3, 2000, Pages 400-403

  Van Ommen, C Heleen ^a,b,c   Peters, Marjolein ^a,b,c   Barth, Peter G ^a,b,c   Vreken, Peter ^a,b,c   Wanders, Ron J A ^a,b,c   Jaeken, Joak ^a,b,c  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD CLOTTING DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; COGNITIVE DEFECT; CONGENITAL DISORDER OF GLYCOSYLATION; HUMAN; MALE; PRIORITY JOURNAL; SCHOOL CHILD; TRANSFERRIN BLOOD LEVEL; VEIN THROMBOSIS;

EID: 0033911485     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2000.103503     Document Type: Article

References (25)

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