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<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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Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2023-04-01
coleção:Diagnostics
Assuntos:
phenylketonuria
<i>PAH</i> pathogenic variants
genotype–phenotype correlation
inborn error of metabolism
Acesso em linha:https://www.mdpi.com/2075-4418/13/8/1483
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