Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D001706:Biopsy; D002478:Cells, Cultured; D005347:Fibroblasts / Q000187:drug effects / Q000201:enzymology*; D006579:Heterozygote; D006710:Homocysteine / Q000494:pharmacology; D006720:Homozygote; D006801:Humans; D006836:Hydro-Lyases / Q000032:analysis*; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D011732:Pyridoxal Phosphate / Q000494:pharmacology; D012694:Serine; D012867:Skin / Q000187:drug effects / Q000201:enzymology*
D006710:Homocysteine; D012694:Serine; D011732:Pyridoxal Phosphate; D006836:Hydro-Lyases