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• Studies in porphyria. VII. Induction of uroporphyrinogen-I synthase and expression of the gene defect of acute intermittent porphyria in mitogen-stimulated human lymphocytes.

  Sassa S, Zalar GL, Kappas A. Sassa S, et al. J Clin Invest. 1978 Feb;61(2):499-508. doi: 10.1172/JCI108961. J Clin Invest. 1978. PMID: 621286 Free PMC article.
• Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

  Lamon JM, Frykholm BC, Tschudy DP. Lamon JM, et al. J Med Genet. 1979 Apr;16(2):134-9. doi: 10.1136/jmg.16.2.134. J Med Genet. 1979. PMID: 458830 Free PMC article.
• Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.

  Johansson A, Möller C, Harper P. Johansson A, et al. Mol Cell Biochem. 2003 Aug;250(1-2):65-71. doi: 10.1023/a:1024946216776. Mol Cell Biochem. 2003. PMID: 12962144
• Uroporphyrinogen I synthase from human erythrocytes: separation, purification, and properties of isoenzymes.

  Miyagi K, Kaneshima M, Kawakami J, Nakada F, Petryka ZJ, Watson CJ. Miyagi K, et al. Proc Natl Acad Sci U S A. 1979 Dec;76(12):6172-6. doi: 10.1073/pnas.76.12.6172. Proc Natl Acad Sci U S A. 1979. PMID: 42911 Free PMC article.
• DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.

  Lee JS, Anvret M, Lindsten J, Lannfelt L, Gellerfors P, Wetterberg L, Floderus Y, Thunell S. Lee JS, et al. Hum Genet. 1988 Aug;79(4):379-81. doi: 10.1007/BF00282182. Hum Genet. 1988. PMID: 2900803