Document bOLkGvpKbqbEZk1xrdmNe1Ej6

A:\PORPHY.ART 4/25/96 Copyright (c) 1994 Scientific American Medicine, death frequently occur. MARK G. PERLROTH, M.D. References 1. Moore MR: Biochemistry of porphyria. Int J Biochem 25:1353, 1993 2. Kauppinen R, Mustajoki P: Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore) 71:1, 1992 3. Desnick RJ, Ostasiewicz LT, Tishler PA, et al: Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. J Clin Invest 76:865, 1985 4. Hindmarsh JT: Enzyme heterogeneity in the porphyrias. Clin Biochem 23:371, 1990 5. Grandchamp B, Picat C, de Rooij F, et al: A point mutation G A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res 17:6637,1989 6. Grandchamp B, Picat C, Mignotte V, et al: Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci USA 86:661, 1989 7. Lamoril J, Boulechfar S, de Verneuil H, et al: Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun 181:594, 1991 8. Elder GH, Roberts AG, de Salamanca RE: Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects. Clin Biochem 22:163, 1989 9. McColl KEL, Thompson GG, Moore MR, et al: Chester porphyria: biochemical studies of a new form of acute porphyria. Lancet 2:796, 1985 10. Norton B, Lanyon WG, Moore MR, et al: Evidence for involvement of a second genetic locus on chromosome llq in porphyrin metabolism. Hum Genet 91:576, 1993 11. Sturrock ED, Meissner PN, Maeder DL, et al: Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria. S Afr Med J 76:405, 1989 Page 17 DSW 476038.1742 STLCOPCB4043891