title: Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux-Vekemans
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
mesh_terms: 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
chemical_list: D003038:Cobamides; D008764:Methylmalonic Acid; C019476:mecobalamin; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D008765:Methylmalonyl-CoA Mutase; C000913:cobamamide; D014805:Vitamin B 12