Successful live birth following preimplantation genetic diagnosis for phenylketonuria in day 3 embryos by specific mutation analysis and elective single embryo transfer
Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by a complete or near-complete deficiency of the liver enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine to tyrosine, leading to the increase of blood and tissue concentration of phe...
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Springer Berlin Heidelberg
2012
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