[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].
Nagao
M
M
National Otaru Hospital, Hokkaido, Japan.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D004247:DNA / Q000032:analysis; D015971:Gene Expression Regulation, Enzymologic; D015316:Genetic Therapy; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D008715:Methionine / Q000097:blood*; D008716:Methionine Adenosyltransferase / Q000172:deficiency / Q000235:genetics; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D004247:DNA; D008715:Methionine; D010651:Phenylalanine Hydroxylase; D008716:Methionine Adenosyltransferase