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Babies with very slight degree of PKU called hyperphenylalaninemia, may have no apparent symptoms and may not need dietary interventions. (3) ...
Phenylketonuria (PKU) accounts for 98% of all hyperphenylalaninemia cases ... to address the metabolic and neurological signs and symptoms of a broad range of PKU patients. About PTC Therapeutics ...
Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes. Treatment ...
The 12 HPA patients detected by neonatal PKU screening (Table 1) had normal amount of pteridine in urine or serum before BH 4 loading, and also had normal dihydropteridine reductase activity ...
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