Referências
Principais artigos
Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31;377(9):862-72. Resumo
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. Resumo
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. Resumo
Artigos de referência
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2. Chen B, Solis-Villa C, Hakenberg J, et al. Acute intermittent porphyria: predicted pathogenicity of HMBS variants indicates extremely low penetrance of the autosomal dominant disease. Hum Mutat. 2016 Nov;37(11):1215-22.Texto completo Resumo
3. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31;377(9):862-72. Resumo
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.
5. Gerischer LM, Scheibe F, Nümann A, et al. Acute porphyrias - a neurological perspective. Brain Behav. 2021 Nov;11(11):e2389.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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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. Resumo
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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.Texto completo Resumo
19. 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.Texto completo Resumo
20. 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.Texto completo Resumo
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25. Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol. 1980 May;116(5):543-7. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
35. Lissing M, Nowak G, Adam R, et al. Liver transplantation for acute intermittent porphyria. Liver Transpl. 2021 Apr;27(4):491-501.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
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.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
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