Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.
DiSilvestre
D
D
Koch
R
R
Groffen
J
J
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*
D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase