Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
Chadefaux-Vekemans
B
B
Rolland
M O
MO
Lyonnet
S
S
Rabier
D
D
Divry
P
P
Kamoun
P
P
D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000172:deficiency*; D003038:Cobamides / Q000096:biosynthesis; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014805:Vitamin B 12 / Q000031:analogs & derivatives / Q000096:biosynthesis
D003038:Cobamides; D008764:Methylmalonic Acid; C019476:mecobalamin; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D008765:Methylmalonyl-CoA Mutase; C000913:cobamamide; D014805:Vitamin B 12