2021年8月6日讯/生物谷BIOON/---苯丙酮尿症（phenylketonuria, PKU）及其较温和的变体高苯丙氨酸血症（hyperphenylalaninemia, HPA）是遗传 ...

2021年8月6日讯/生物谷BIOON/---苯丙酮尿症（phenylketonuria, PKU）及其较温和的变体高苯丙氨酸血症（hyperphenylalaninemia, HPA）是遗传 ...

Scriver CR, Kaufman S . Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic & Molecular Bases of Inherited Disease.

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.

Phenylketonuria (PKU) accounts for 98% of all hyperphenylalaninemia cases and is a metabolic condition that can lead to cognitive disabilities and seizures. PTC923 is an oral formulation of ...

(NASDAQ: PTCT) today announced that both the United States Food and Drug Administration (FDA) and European Commission (EC) have granted Orphan Drug Designation (ODD) for PTC923 for the treatment of ...

Dec. 26, 2002 -- Tetrahydrobiopterin may be a useful alternative to dietary restriction for mild hyperphenylalanemia or mild phenylketonuria (PKU), according to a preliminary report published in ...

The Food and Drug Administration (FDA) has granted Orphan Drug designation to PTC923 for the treatment of patients with hyperphenylalaninemia. Hyperphenylalaninemia, a rare metabolic condition ...

GlobalData's clinical trial report, "Hyperphenylalaninemia Global Clinical Trials Review, H2, 2017" provides an overview of Hyperphenylalaninemia clinical trials scenario. This report provides top ...