Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally.
Stibler
H
H
Department of Neurology, Karolinska Hospital, Stockholm, Sweden.
Skovby
F
F
D015193:Chorionic Villi Sampling; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics*; D005183:Failure to Thrive / Q000097:blood / Q000235:genetics; D006023:Glycoproteins / Q000097:blood / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis; D013577:Syndrome; D014168:Transferrin / Q000031:analogs & derivatives / Q000235:genetics / Q000378:metabolism; D000509:alpha-Fetoproteins / Q000235:genetics / Q000378:metabolism
D006023:Glycoproteins; D014168:Transferrin; D000509:alpha-Fetoproteins; C056759:carbohydrate-deficient transferrin