Acute intermittent porphyria

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Phillips JD, Anderson KE. The porphyrias (Chapter 59). In: Kaushansky K, Lichtman MA, Prchal JT, et al, eds. Williams Hematology, 10th edition. McGraw-Hill, 2021: 961-86.

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. Abstract

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3. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31;377(9):862-72. Abstract

4. Phillips JD, Anderson KE. The porphyrias (Chapter 59). In: Kaushansky K, Lichtman MA, Prchal JT, et al, eds. Williams Hematology, 10th edition. McGraw-Hill, 2021: 961-86.

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6. 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. Abstract

7. Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Mol Genet Metab. 2019 Nov;128(3):320-31.Full text  Abstract

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14. Lip GYH, McColl KEL, Goldberg A, et al. Smoking and recurrent attacks of acute intermittent porphyria. Br Med J. 1991 Mar 2;302(6775):507.Full text  Abstract

15. Bonkovsky HL, Maddukuri VC, Yazici C, et al. Acute porphyrias in the USA: features of 108 subjects from Porphyrias Consortium. Am J Med. 2014 Dec;127(12):1233-41.Full text  Abstract

16. Wang B, Bonkovsky HL, Lim JK, et al. AGA clinical practice update on diagnosis and management of acute hepatic porphyrias: expert review. Gastroenterology. 2023 Mar;164(3):484-91.Full text  Abstract

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18. Kühnel A, Gross U, Jacob K, et al. Studies on coproporphyrin isomers in urine and feces in the porphyrias. Clin Chim Acta. 1999 Apr;282(1-2):45-58. Abstract

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21. Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol. 1980 May;116(5):543-7. Abstract

22. Hift RJ, Davidson BP, Van der Hooft C, et al. 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.Full text  Abstract

23. Balwani M, Wang B, Anderson KE, et al. Acute hepatic porphyrias: recommendations for evaluation and long-term management. Hepatology. 2017 Oct;66(4):1314-22.Full text  Abstract

24. Anderson KE, Bonkovsky HL, Bloomer JR, et al. Reconstitution of hematin for intravenous infusion. Ann Intern Med. 2006 Apr 4;144(7):537-8. Abstract

25. Ventura P, Bonkovsky HL, Gouya L, et al. Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study. Liver Int. 2022 Jan;42(1):161-72.Full text  Abstract

26. Marsden JT, Guppy S, Stein P, et al. Audit of the use of regular haem arginate infusions in patients with acute porphyria to prevent recurrent symptoms. JIMD Rep. 2015 Mar 12;22:57-65.Full text  Abstract

27. Schulenburg-Brand D, Gardiner T, Guppy S, et al. An audit of the use of gonadorelin analogues to prevent recurrent acute symptoms in patients with acute porphyria in the United Kingdom. JIMD Rep. 2017 Feb 21;36:99-107.Full text  Abstract

28. Soonawalla ZF, Orug T, Badminton MN, et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet. 2004 Feb 28;363(9410):705-6. Abstract

29. Seth AK, Badminton MN, Mirza D, et al. Liver transplantation for porphyria: who, when, and how? Liver Transpl. 2007 Sep;13(9):1219-27.Full text  Abstract

30. Dowman JK, Gunson BK, Mirza DF, et al. Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl. 2012 Feb;18(2):195-200.Full text  Abstract

31. Lissing M, Nowak G, Adam R, et al. Liver transplantation for acute intermittent porphyria. Liver Transpl. 2021 Apr;27(4):491-501.Full text  Abstract

32. D'Avola D, López-Franco E, Sangro B, et al. Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. J Hepatol. 2016 Oct;65(4):776-83.Full text  Abstract

33. Jeans JB, Savik K, Gross CR, et al. Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. Am J Med Genet. 1996 Nov 11;65(4):269-73. Abstract

34. Church SE, McColl KE, Moore MR, et al. Hypertension and renal impairment as complications of acute porphyria. Nephrol Dial Transplant. 1992;7(10):986-90. Abstract

35. Pallet N, Mami I, Schmitt C, et al. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney Int. 2015 Aug;88(2):386-95.Full text  Abstract

36. Tchernitchko D, Tavernier Q, Lamoril J, et al. A variant of peptide transporter 2 predicts the severity of porphyria-associated kidney disease. J Am Soc Nephrol. 2017 Jun;28(6):1924-32.Full text  Abstract

37. Sardh E, Andersson DE, Henrichson A, et al. Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes. Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):66-71. Abstract

38. Nunez DJ, Williams PF, Herrick AL, et al. Renal transplantation for chronic renal failure in acute porphyria. Nephrol Dial Transplant. 1987;2(4):271-4. Abstract

39. Wahlin S, Harper P, Sardh E, et al. Combined liver and kidney transplantation in acute intermittent porphyria. Transpl Int. 2010 Jun;23(6):e18-21.Full text  Abstract

40. Sardh E, Wahlin S, Björnstedt M, et al. High risk of primary liver cancer in a cohort of 179 patients with acute hepatic porphyria. J Inherit Metab Dis. 2013 Nov;36(6):1063-71. Abstract

41. Andant C, Puy H, Bogard C, et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. J Hepatol. 2000 Jun;32(6):933-9. Abstract