Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31. 377 (9):862-872. [Medline].
Kuo HC, Huang CC, Chu CC, Lee MJ, Chuang WL, Wu CL, et al. Neurological complications of acute intermittent porphyria. Eur Neurol. 2011. 66(5):247-52. [Medline].
Storjord E, Dahl JA, Landsem A, Fure H, Ludviksen JK, Goldbeck-Wood S, et al. Systemic inflammation in acute intermittent porphyria: a case-control study. Clin Exp Immunol. 2017 Mar. 187 (3):466-479. [Medline].
Ramanujam VM, 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. [Medline].
Cederlöf M, Bergen SE, Larsson H, Landén M, Lichtenstein P. Acute intermittent porphyria: comorbidity and shared familial risks with schizophrenia and bipolar disorder in Sweden. Br J Psychiatry. 2015 Dec. 207 (6):556-7. [Medline].
Simon A, Pompilus F, Querbes W, Wei A, Strzok S, Penz C, et al. Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations. Patient. 2018 Oct. 11 (5):527-537. [Medline]. [Full Text].
Mikami Y, Nagai T, Gomi Y, Takai Y, Saito M, Baba K, et al. Methotrexate and actinomycin D chemotherapy in a patient with porphyria: a case report. J Med Case Rep. 2016 Jan 18. 10:9. [Medline].
Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, et al. Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium. Am J Med. 2014 Jul 9. [Medline].
Anyaegbu E, Goodman M, Ahn SY, Thangarajh M, Wong M, Shinawi M. Acute Intermittent Porphyria: A Diagnostic Challenge. J Child Neurol. 2011 Dec 21. [Medline].
Menegueti MG, Gil Cezar AT, Casarini KA, Muniz Cordeiro KS, Basile-Filho A, Martins-Filho OA, et al. Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach. Crit Care Res Pract. 2011. 2011:283690. [Medline]. [Full Text].
Zheng X, Liu X, Wang Y, Zhao R, Qu L, Pei H, et al. Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review. Medicine (Baltimore). 2018 Sep. 97 (36):e11665. [Medline]. [Full Text].
Whatley SD, Mason NG, Woolf JR, et al. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clin Chem. 2009 Jul. 55(7):1406-14. [Medline].
[Guideline] Stein P, Badminton M, Barth J, Rees D, Stewart MF, British and Irish Porphyria Network. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013 May. 50 (Pt 3):217-23. [Medline]. [Full Text].
Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015. 8:201-14. [Medline]. [Full Text].
Givosiran. 2012. [Medline]. [Full Text].
Bonnefoy Mirralles AM, Torres-Castro R, Ovalle Guzman C. A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria. Am J Phys Med Rehabil. 2017 May. 96 (5):e85-e88. [Medline].
D'Avola D, López-Franco E, Sangro B, Pañeda A, Grossios N, Gil-Farina I, et al. Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. J Hepatol. 2016 Oct. 65 (4):776-83. [Medline]. [Full Text].
Serrano I, Sampedro A, Alegre M, Enriquez de Salamanca R, Berraondo P, Fontanellas A. An inducible promoter responsive to different porphyrinogenic stimuli improves gene therapy vectors for acute intermittent porphyria. Hum Gene Ther. 2017 Oct 7. [Medline].
Willandt B, Langendonk JG, Biermann K, Meersseman W, D'Heygere F, George C, et al. Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series. JIMD Rep. 2015 Jun 21. 50 (Pt 3):217-23. [Medline].
Delaby C, To-Figueras J, Deybach JC, et al. Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients. J Intern Med. 2009 Apr 23. epub ahead of print. [Medline].
Syal K, Bhatt R, Singh S, Ohri A. Acute intermittent porphyria. J Anaesthesiol Clin Pharmacol. 2015 Apr-Jun. 31 (2):261-3. [Medline]. [Full Text].
Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):277-93. [Medline].
Bylesjo I, Wikberg A, Andersson C. Clinical aspects of acute intermittent porphyria in northern Sweden: A population-based study. Scand J Clin Lab Invest. 2009 Apr 28. 1-7. [Medline].
Daniell WE, Stockbridge HL, Labbe RF, et al. Environmental chemical exposures and disturbances of heme synthesis. Environ Health Perspect. 1997 Feb. 105 Suppl 1:37-53. [Medline].
Gill R, Kolstoe SE, Mohammed F, et al. Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria. Biochem J. 2009 Apr 28. 420(1):17-25. [Medline].
Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). 1992 Jan. 71(1):1-13. [Medline].