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• Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

  Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. Kayaalp E, et al. Am J Hum Genet. 1997 Dec;61(6):1309-17. doi: 10.1086/301638. Am J Hum Genet. 1997. PMID: 9399896 Free PMC article.
• Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

  Zhang C, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X. Zhang C, et al. Orphanet J Rare Dis. 2023 May 26;18(1):128. doi: 10.1186/s13023-023-02742-1. Orphanet J Rare Dis. 2023. PMID: 37237386 Free PMC article.
• Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

  Sarkissian CN, Gamez A, Scott P, Dauvillier J, Dorenbaum A, Scriver CR, Stevens RC. Sarkissian CN, et al. JIMD Rep. 2012;5:59-70. doi: 10.1007/8904_2011_96. Epub 2011 Dec 6. JIMD Rep. 2012. PMID: 23430918 Free PMC article.
• Relevance of the Human Genome Project to inherited metabolic disease.

  Burn J. Burn J. J Inherit Metab Dis. 1994;17(4):421-9. doi: 10.1007/BF00711357. J Inherit Metab Dis. 1994. PMID: 7967492 Review.
• The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

  Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X. Zhang C, et al. Hum Genomics. 2023 Apr 25;17(1):36. doi: 10.1186/s40246-023-00475-7. Hum Genomics. 2023. PMID: 37098607 Free PMC article.