Sapropterin for treatment of patients with Phenylketonuria: Identification of subpopulations with substantial clinical benefit

沙丙蝶呤治疗苯丙酮尿症患者：鉴定具有显着临床益处的亚群

• 批准号: 244059
• 负责人: Stockler Sylvia
• 金额: $ 7.14万
• 依托单位: University of British Columbia
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2011
• 资助国家: 加拿大
• 起止时间: 2011-10-01 至 2012-10-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=244059&lang=en
• 关键词: Children; Clinical Benefit; Expensive Drug For Rare Disease; Funding To Create Evidence; Kuvan; Outcome; Phenylketonuria; Sapropterin Dihydrochloride

Phenylketonuria (PKU) is a rare genetic condition affecting the breakdown of the aminoacid phenylalanine (phe). PKU results in intellectual disability if untreated. Treatment consists of a very low protein diet and patients are not always able to adhere t

苯丙酮尿症（PKU）是一种罕见的遗传性疾病，影响氨基酸苯丙氨酸（phe）的分解。如果不治疗，PKU会导致智力残疾。治疗包括一个非常低的蛋白质饮食和病人并不总是能够坚持治疗。