The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.
Jaeken
J
J
Department of Pediatrics, University Hospital, Leuven, Belgium.
Stibler
H
H
Hagberg
B
B
D000293:Adolescent; D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005808:Genes, Recessive; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D008107:Liver Diseases / Q000209:etiology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D011296:Prenatal Diagnosis; D014168:Transferrin / Q000031:analogs & derivatives / Q000032:analysis / Q000737:chemistry; D000509:alpha-Fetoproteins / Q000032:analysis
D006023:Glycoproteins; D014168:Transferrin; D000509:alpha-Fetoproteins; C056759:carbohydrate-deficient transferrin