Investigation of Phenylketonuria molecular basis : focus on phenylalanine in...

Phenylketonuria is one of the most common inherited metabolic disorders (1:10,000 births). A new paradigm for the aetiopathology of phenylketonuria suggests the presence of...苯丙酮尿症（Phenylketonuria）是最为常见的遗传性代谢病之一，活产儿发病率约为1:10000。针对苯丙酮尿症的病因病理学，目前已提出一种全新的研究范式，该范式表明存在……