Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen?
Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia. Electronic address: urh.groselj@kclj.si.
Urh
U
Groselj
Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia.
Mojca Zerjav
MZ
Tansek
Center for Medical Genetics, University Children's Hospital Ljubljana, Ljubljana, Slovenia.
Katarina Trebusak
KT
Podkrajsek
Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital Ljubljana, Ljubljana, Slovenia; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Tadej
T
Battelino
D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000209:etiology*
D010651:Phenylalanine Hydroxylase
Hyperphenylalaninemia; Large deletions; Mutation analysis; PAH gene