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Loeber, J.G. (2007) Neonatal screening in Europe; the situation in 2004. Journal of Inherited Metabolic Disease, 30, 430-438. doi:10.1007/s10545-007-0644-5

has been cited by the following article:

• TITLE: PAH mutational spectrum: still expanding

  AUTHORS: Laura Vilarinho, Sofia Esteves, Elisabete Ramos, António Amorim, Luisa Azevedo

  KEYWORDS: Phenylketonuria (PKU); Phenylalanine Hydroxylase; PAH Gene; Novel Mutation

  JOURNAL NAME: Open Journal of Genetics, Vol.1 No.2, September 23, 2011

  ABSTRACT: Phenylketonuria (PKU, MIM 261600) is the most common inborn error of amino acid metabolism. To date, a total of more than 500 mutations have been associated with the disease. In this report, the novel p.Glu182Lys mutation, found in a Portuguese family in combination with the previously reported p.Leu 348Val, is presented and its putative deleterious impact discussed.