An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa.
du Plessis
J A
JA
Division of Biochemistry, School for Chemistry and Biochemistry, Potchefstroom University for Christian Higher Education.
Pretorius
P J
PJ
Lippert
M M
MM
Knoll
D P
DP
Erasmus
E
E
van der Westhuizen
F H
FH
Mienie
L J
LJ
D001766:Blindness / Q000209:etiology; D018981:Congenital Disorders of Glycosylation / Q000097:blood* / Q000145:classification / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007525:Isoelectric Focusing; D012640:Seizures / Q000209:etiology; D013019:South Africa; D014168:Transferrin / Q000378:metabolism
D014168:Transferrin