The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

Adolescent Adult Amniotic Fluid/chemistry Carbohydrate Metabolism, Inborn Errors/complications,diagnosis,genetics Child Child, Preschool Female Fetal Blood/chemistry Genes, Recessive Glycoproteins/deficiency Humans Infant Intellectual Disability/etiology,pathology,physiopathology Liver Diseases/etiology,pathology Male Middle Aged Nervous System Diseases/etiology,pathology,physiopathology Prenatal Diagnosis Transferrin/analogs & derivatives,analysis,chemistry alpha-Fetoproteins/analysis

Glycoproteins Transferrin alpha-Fetoproteins carbohydrate-deficient transferrin