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  1. From basic knowledge to daily management

    ... assay system to test antisense oligonucleotides for splice suppression therapy in the liver. Oxidative stress in PKU ...

  2. Differential diagnosis of PKU and BH4 deficiency

    ... codons, and other common variants, such as deletions (15%), splice variants (12%), indels (4%) and synonymous variants (4%), indicating PKU ...