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References

These sources were used to develop the Genetics Home Reference gene summary on the PAH gene.

Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 2004 Jun;82(2):101-11. Review. PubMed citation
Entrez Gene
Erlandsen H, Patch MG, Gamez A, Straub M, Stevens RC. Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. Pediatrics. 2003 Dec;112(6 Pt 2):1557-65. Review. PubMed citation
Gene Review: Phenylalanine Hydroxylase Deficiency
Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003 Dec;112(6 Pt 2):1530-3. PubMed citation
Pey AL, Desviat LR, Gámez A, Ugarte M, Pérez B. Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat. 2003 Apr;21(4):370-8. PubMed citation
Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007 Sep;28(9):831-45. Review. PubMed citation
Waters PJ. How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. Hum Mutat. 2003 Apr;21(4):357-69. Review. PubMed citation

Reviewed: January 2008

Published: May 20, 2013