Brenner DA, Bloomer JR. The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. N Engl J Med. 1980 Apr 3. 302(14):765-9. [QxMD MEDLINE Link].
Meissner PN, Day RS, Moore MR, Disler PB, Harley E. Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. Eur J Clin Invest. 1986 Jun. 16(3):257-61. [QxMD MEDLINE Link].
Kirsch RE, Meissner PN, Hift RJ. Variegate porphyria. Semin Liver Dis. 1998. 18(1):33-41. [QxMD MEDLINE Link].
Whatley SD, Puy H, Morgan RR, et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am J Hum Genet. 1999 Oct. 65(4):984-94. [QxMD MEDLINE Link].
Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem. 1980. 12(5-6):837-53. [QxMD MEDLINE Link].
Mustajoki P. Variegate porphyria. Twelve years' experience in Finland. Q J Med. 1980 Spring. 49(194):191-203. [QxMD MEDLINE Link].
Bonkowsky HL, Schady W. Neurologic manifestations of acute porphyria. Semin Liver Dis. 1982 May. 2(2):108-24. [QxMD MEDLINE Link].
Bonkovsky HL, Barnard GF. The Porphyrias. Curr Treat Options Gastroenterol. 2000 Dec. 3(6):487-500. [QxMD MEDLINE Link].
Meissner P, Adams P, Kirsch R. Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria. J Clin Invest. 1993 Apr. 91(4):1436-44. [QxMD MEDLINE Link].
Meyer UA, Schuurmans MM, Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis. 1998. 18(1):43-52. [QxMD MEDLINE Link].
Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Mol Genet Metab. 2018 Nov 30. [QxMD MEDLINE Link].
Susa S, Sato-Monma F, Ishii K, Hada Y, Takase K, Tada K, et al. Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. Intern Med. 2016. 55 (20):2965-2969. [QxMD MEDLINE Link].
Corrigall AV, Hift RJ, Davids LM, et al. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. Mol Genet Metab. 2000 Apr. 69(4):323-30. [QxMD MEDLINE Link].
Hift RJ, Meissner PN, Todd G, et al. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J. 1993 Oct. 69(816):781-6. [QxMD MEDLINE Link].
Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet. 1996 May. 13(1):95-7. [QxMD MEDLINE Link].
Dean G. The porphyrias. A story of inheritance and environment. London: Pitman Medical; 1971. 2nd ed.
van Serooskerken AM, Ernst M, Bladergroen RS, Wolff C, Floderus Y, Harper P. A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?. J Dermatol Sci. 2011 Jan. 61(1):75-7. [QxMD MEDLINE Link].
Frank J, Alta VM, Ahmad W, Lam H, Wolff C, Christiano AM. Identification of a Founder Mutation in the Protoporphyrinogen Oxidase Gene in Variegate Porphyria Patients from Chile. Human Heredity. 2001. 51:160-8.
Granata BX, Parera VE, Batlle A, Rossetti MV. Haplotype Study in Argentinean Variegate Porphyria Patients. Hum Hered. 2015. 80 (3):139-43. [QxMD MEDLINE Link].
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis. 2012 Nov 1. [QxMD MEDLINE Link].
Edel Y, Mamet R, Snast I, Kaftory R, Mazor S, Hodak E, et al. Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study. J Eur Acad Dermatol Venereol. 2019 Jul 2. [QxMD MEDLINE Link].
Ramanujam VS, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015 Jul 1. 86:17.20.1-17.20.26. [QxMD MEDLINE Link].
Mustajoki P, Tenhunen R, Niemi KM, Nordmann Y, Kaariainen H, Norio R. Homozygous variegate porphyria. A severe skin disease of infancy. Clin Genet. 1987 Nov. 32(5):300-5. [QxMD MEDLINE Link].
Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore). 2005 Jan. 84(1):48-60. [QxMD MEDLINE Link].
von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet. 2002 Oct. 10(10):649-57. [QxMD MEDLINE Link].
Hift RJ, Meissner D, Meissner PN. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. Br J Dermatol. 2004 Aug. 151(2):465-71. [QxMD MEDLINE Link].
Korda V, Deybach JC, Martasek P, et al. Homozygous variegate porphyria. Lancet. 1984 Apr 14. 1(8381):851. [QxMD MEDLINE Link].
Dawit S, Bhatt SK, Das DM, Pines AR, Shiue HJ, Goodman BP, et al. Nonconvulsive status epilepticus secondary to acute porphyria crisis. Epilepsy Behav Case Rep. 2019. 11:43-46. [QxMD MEDLINE Link].
Rasheed F, Mehdi QS, Bhatti S, Ali Khan MM. Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report. Cureus. 2018 Sep 24. 10 (9):e3351. [QxMD MEDLINE Link].
Church SE, McColl KE, Moore MR, Youngs GR. Hypertension and renal impairment as complications of acute porphyria. Nephrol Dial Transplant. 1992. 7 (10):986-90. [QxMD MEDLINE Link].
Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI. Hepatocellular carcinoma in variegate porphyria: a serious complication. Acta Derm Venereol. 2010 Sep. 90(5):512-5. [QxMD MEDLINE Link].
Luvai A, Mbagaya W, Narayanan D, Degg T, Toogood G, Wyatt JI, et al. Hepatocellular carcinoma in variegate porphyria: a case report and literature review. Ann Clin Biochem. 2015 May. 52 (Pt 3):407-12. [QxMD MEDLINE Link].
Singal AK, Anderson KE. Variegate porphyria. GeneReviews - NCBI Bookshelf. Feb 14, 2013. [QxMD MEDLINE Link]. [Full Text].
Peoc'h K, Manceau H, Karim Z, Wahlin S, Gouya L, Puy H, et al. Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword. Mol Genet Metab. 2018 Oct 9. [QxMD MEDLINE Link].
Herrick AL, Moore MR, Thompson GG, Ford GP, McColl KE. Cholelithiasis in patients with variegate porphyria. J Hepatol. 1991 Jan. 12 (1):50-3. [QxMD MEDLINE Link].
Muraldihar A, Vikram RS, Pechtor K, Howell MR. Recurrent variegate porphyria in a pregnant woman. Journal of Obstetrics and Gynaecology. 2006. 8:809-824.
Wolff C, Merino RA. Porfiria y embarazo. Rev Med Chile. 2008. 136:151-156.
Marsden JT, Rees DC. A retrospective analysis of outcome of pregnancy in patients with acute porphyria. J Inherit Metab Dis. 2010 Oct. 33(5):591-6. [QxMD MEDLINE Link].
Badminton MN, Deybach JC. Treatment of an acute attack of porphyria during pregnancy. Eur J Neurol. 2006 Jun. 13 (6):668-9. [QxMD MEDLINE Link].
Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. 2006 Nov. 135(3):281-92. [QxMD MEDLINE Link].
Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):277-93. [QxMD MEDLINE Link].
Hift RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem. 2004 May. 50(5):915-23. [QxMD MEDLINE Link].
Kühnel A, Gross U, Jacob K, Doss MO. Studies on coproporphyrin isomers in urine and feces in the porphyrias. Clin Chim Acta. 1999 Apr. 282 (1-2):45-58. [QxMD MEDLINE Link].
Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol. 1980 May. 116(5):543-7. [QxMD MEDLINE Link].
Logan GM, Weimer MK, Ellefson M, Pierach CA, Bloomer JR. Bile porphyrin analysis in the evaluation of variegate porphyria. N Engl J Med. 1991 May 16. 324(20):1408-11. [QxMD MEDLINE Link].
Wang B, Rudnick S, Cengia B, Bonkovsky HL. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun. 2019 Feb. 3 (2):193-206. [QxMD MEDLINE Link].
Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. Mol Genet Metab. 2018 Oct 26. [QxMD MEDLINE Link].
Chen B, Whatley S, Badminton M, et al. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genet Med. 2019 Nov. 21 (11):2605-2613. [QxMD MEDLINE Link].
Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. 1973 May. 107(5):689-98. [QxMD MEDLINE Link].
Timonen K, Niemi KM, Mustajoki P, Tenhunen R. Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study. Arch Dermatol Res. 1990. 282(2):108-14. [QxMD MEDLINE Link].
Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15. 142(6):439-50. [QxMD MEDLINE Link].
Kalman DR, Bonkovsky HL. Management of acute attacks in the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):299-306. [QxMD MEDLINE Link].
Findley H, Philips A, Cole D, Nair A. Porphyrias: implications for anaesthesia, critical care, and pain medicine. Oxford Journals. Available at http://ceaccp.oxfordjournals.org/content/early/2012/02/27/bjaceaccp.mks009.full. February 27, 2012; Accessed: April 8, 2016.
Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015. 8:201-14. [QxMD MEDLINE Link].
Tschudy DP, Welland FH, Collins A, Hunter G Jr. The effect of carbohydrate feeding on the induction of delta-aminolevulinic acid synthatase. Metabolism. 1964 May. 13:396-406. [QxMD MEDLINE Link].
Bonkovsky HL, Healey JF, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. 1991 Aug. 86(8):1050-6. [QxMD MEDLINE Link].
Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, et al. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A. 2014 May 27. 111 (21):7777-82. [QxMD MEDLINE Link].
Anderson KE, Spitz IM, Sassa S, Bardin CW, Kappas A. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. N Engl J Med. 1984 Sep 6. 311(10):643-5. [QxMD MEDLINE Link].
Sardh E, Harper P, Balwani M, Stein P, Rees D, Bissell DM, et al. Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria. N Engl J Med. 2019 Feb 7. 380 (6):549-558. [QxMD MEDLINE Link].
Stojeba N, Meyer C, Jeanpierre C, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl. 2004 Jul. 10(7):935-8. [QxMD MEDLINE Link].