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• Urine-Based Liquid Biopsy for Nonurological Cancers.

  Jain S, Lin SY, Song W, Su YH. Jain S, et al. Genet Test Mol Biomarkers. 2019 Apr;23(4):277-283. doi: 10.1089/gtmb.2018.0189. Genet Test Mol Biomarkers. 2019. PMID: 30986103 Free PMC article. Review.
• Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

  Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N. Thöny B, et al. Am J Hum Genet. 1998 Jun;62(6):1302-11. doi: 10.1086/301887. Am J Hum Genet. 1998. PMID: 9585615 Free PMC article.
• Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

  Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N. Ponzone A, et al. Eur J Pediatr. 1993 Aug;152(8):655-61. doi: 10.1007/BF01955242. Eur J Pediatr. 1993. PMID: 8404969
• Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.

  Davis MD, Kaufman S, Milstien S. Davis MD, et al. Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):385-9. doi: 10.1073/pnas.88.2.385. Proc Natl Acad Sci U S A. 1991. PMID: 1988938 Free PMC article.
• Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

  Blau N, Kierat L, Curtius HC, Blaskovics M, Giudici T. Blau N, et al. J Inherit Metab Dis. 1992;15(3):409-12. doi: 10.1007/BF02435990. J Inherit Metab Dis. 1992. PMID: 1405481 No abstract available.