Up to date knowledge on different treatment strategies for phenylketonuria
نویسندگان
چکیده
منابع مشابه
Future treatment strategies in phenylketonuria.
Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prevent clinical features of the disorder; dietary management was established almost 60 years ago. The institution of a low-phenylalanine (Phe) diet in the first few weeks of life was made possible by Guthrie neonatal screening, which further increased effectiveness of therapy. Indeed, neonatal diagn...
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Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease's clinical features. Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy. This review aims to summarize the current literature on new treatment strategies. Additions to t...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2011
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.08.009