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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Hlavní autoři: Lavery, Stuart, Abdo, Dima, Kotrotsou, Mara, Trew, Geoff, Konstantinidis, Michalis, Wells, Dagan
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3575040/
https://ncbi.nlm.nih.gov/pubmed/23430494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_140
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