Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card.
Nogueira
Célia
C
Quelhas
Dulce
D
Vilarinho
Laura
L
D001800:Blood Specimen Collection; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics*; D011296:Prenatal Diagnosis
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase