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Current Opinion in Pediatrics, 2002
Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed.
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Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed.
openaire +2 more sources
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice
Nature Medicine, 2018L. Villiger +11 more
semanticscholar +1 more source
Tetrahydrobiopterin and phenylketonuria
The Journal of Pediatrics, 2011PORTA, FRANCESCO +4 more
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