<i>PAH</i> Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania

Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (<i>PAH</i>) gene and is characterized by altered amino acid metabolism. More than 1500 known <i>PAH</i> variants intricately determine a spectrum of metabolic phenotypes. We aim to report on clinical presentation and <i>P...

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Autors principals:	Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Streață, Codruța Petcheși, Andra Dan, Cristian Sava, Andreea Balmoș, Cristian Marinău, Larisa Niulaș, Mihai Ioana, Marius Bembea
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2023-04-01
Col·lecció:	Diagnostics
Matèries:	phenylketonuria <i>PAH</i> pathogenic variants genotype–phenotype correlation inborn error of metabolism
Accés en línia:	https://www.mdpi.com/2075-4418/13/8/1483
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