
Keywords: سپتیاپترین ردوکتاز; HPA; hyperphenylalaninemia; PAH; phenylalanine hydroxylase; BH4; tetrahydrobiopterin; NGS; next generation sequencing; MLPA; multiplex ligation-dependent probe amplification; qRT-PCR; quantitative real-time PCR; APV; allelic phenotype values; GPV; genotyp