Associated Papers
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.
Ohlsson A et al.
Jimd Reports, 2017
[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].
Oscarson M et al.
Lakartidningen, 2016
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