Successful live birth following preimplantation genetic diagnosis for phenylketonuria in day 3 embryos by specific mutation analysis and elective single embryo transfer

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...

書目詳細資料
Main Authors:	Lavery, S, Abdo, D, Kotrotsou, M, Trew, G, Konstantinidis, M, Wells, D
格式:	Book section
出版:	Springer Berlin Heidelberg 2012

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