Two siblings of hyperphenylalaninemia: suggestion to a genetic variant of phenylketonuria.
D000596:Amino Acids / Q000097:blood; D002247:Carbon Isotopes; D002845:Chromatography; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008099:Liver / Q000201:enzymology; D008297:Male; D006899:Mixed Function Oxygenases / Q000378:metabolism; D010649:Phenylalanine / Q000097:blood* / Q000378:metabolism; D010661:Phenylketonurias / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D010667:Phenylpyruvic Acids / Q000652:urine; D014443:Tyrosine / Q000097:blood
D000596:Amino Acids; D002247:Carbon Isotopes; D010667:Phenylpyruvic Acids; D014443:Tyrosine; D010649:Phenylalanine; D006899:Mixed Function Oxygenases