[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency].
Rey
F
F
Département de Pédiatrie, l'Unité de Recherche de Génétique Médicale (INSERM U12), Hôpital des Enfants Malades, Paris.
Munnich
A
A
Lyonnet
S
S
Rey
J
J
D000592:Amino Acid Metabolism, Inborn Errors / Q000145:classification*; D002648:Child; D014644:Genetic Variation; D006801:Humans; D006900:Hydroxylation; D009154:Mutation; D010649:Phenylalanine / Q000097:blood* / Q000378:metabolism / Q000493:pharmacokinetics; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics
D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase
Classification et hétérogénéité des hyperphénylalaninémies liées à un déficit en phénylalanine hydroxylase.