急性间歇性卟啉病

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

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. 摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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15. 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. 摘要

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17. Anderson KE, Spitz IM, Bardin CW, et al. A GnRH analogue prevents cyclical attacks of porphyria. Arch Int Med. 1990 Jul;150(7):1469-74. 摘要

18. 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.全文  摘要

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22. 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. 摘要

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

26. 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.全文  摘要

27. 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.全文  摘要

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

29. 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.全文  摘要

30. 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.全文  摘要

31. 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.全文  摘要

32. 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. 摘要

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

34. 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.全文  摘要

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

36. 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.全文  摘要

37. 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. 摘要

38. 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. 摘要

39. 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.全文  摘要

40. 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.全文  摘要

41. 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. 摘要

42. 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. 摘要

43. 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.全文  摘要

44. 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. 摘要

45. 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. 摘要