PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria.
Zschocke
J
J
Department of Paediatrics, University Children's Hospital, Heidelberg, Germany. johannes_zschocke@med.uni-heidelberg.de
Hoffmann
G F
GF
D000293:Adolescent; D000483:Alleles; D002648:Child; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009751:Nutritional Requirements; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D010661:Phenylketonurias / Q000178:diet therapy / Q000235:genetics* / Q000378:metabolism*
D010651:Phenylalanine Hydroxylase