Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania

• Ngā kaituhi matua: Alin Remus Iuhas (Author), Claudia Jurca (Author), Marius Bembea (Author)
• Hōputu: Pukapuka
• I whakaputaina: Amaltea Medical Publishing House, 2022-06-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacid metabolism. The variations in phenylalanine-hydroxylase (PAH) gene lead to a lowered enzymatic activity causing hyperphenylalaninemia. PKU has a mean European p...