Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency; D011422:Propionates / Q000378:metabolism; D014805:Vitamin B 12 / Q000378:metabolism / Q000627:therapeutic use
D008314:Malonates; D011422:Propionates; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D014805:Vitamin B 12