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Tetrahydrobiopterin and maternal PKU
Molecular Genetics and Metabolism, 2005A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy.
Kathryn Moseley, F Güttler
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