Abstract
Background
Methods
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Keywords
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- The porphyrias: advances in diagnosis and treatment.Blood. 2012; 120: 4496-4504
- Porphyrin and heme metabolism and the porphyrias.Compr Physiol. 2013; 3: 365-401
- Circadian rhythms in acute intermittent porphyria a pilot study.Eur J Clin Invest. 2013; 43: 727-739
- Porphyrin and heme metabolism and the porphyrias.in: Zakim D. Boyer T.D. Hepatology–A Textbook of Liver Disease. 2nd ed. Elsevier, Philadelphia1990: 378-424
- Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias.in: Scriver C.R. Beaudet A.L. Sly W.S. Valle D. The Metabolic Basis of Inherited Disease. 8th ed. McGraw-Hill, New York2001: 2991-3062
- delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.Mol Genet Metab. 2006; 97: 329-336
- Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series.Am J Med Genet. 1996; 65: 269-273
- Acute intermittent porphyria. A clinical and biochemical study of 46 patients.Medicine. 1970; 49: 1-16
- Fifty years of porphyria at the University of Cape Town.S Afr Med J. 2012; 102: 422-426
- 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. 2005; 84: 48-60
- Variegate porphyria. Twelve years' experience in Finland.Q J Med. 1980; 49: 191-203
- 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; 65: 984-994
- Porphyria in Sweden.Physiol Res. 2006; 555: S109-S118
- A plasma porphyrin fluorescence marker for variegate porphyria.Arch Dermatol. 1980; 116: 543-547
- Recommendations for the diagnosis and treatment of the acute porphyrias.Ann Intern Med. 2005; 142: 439-450
- 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; 55: 1406-1414
- The incidence of inherited porphyrias in Europe.J Inherit Metab Dis. 2012; 26: 476-483
- Open-label study of hemin for acute porphyria: clinical practice implications.Am J Med. 2006; 119 (e19-801.e24): 801
- Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis.Liver Transpl. 2012; 18: 195-200
- Combined liver and kidney transplantation in acute intermittent porphyria.Transpl Int. 2010; 23: e18-e21
- Treatment of an acute attack of porphyria during pregnancy.Eur J Neurol. 2006; 13: 668-669
Article info
Publication history
Footnotes
Funding: Supported by the American Porphyria Foundation and by a grant [HL117199] and contract [U54 DK083909] from the National Institutes of Health (NIH). The U54 funds the Porphyrias Consortium, part of the Rare Disease Clinical Research Network, a collaboration among the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science, and the National Institute of Diabetes and Digestive and Kidney Diseases. The content of this work is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
Conflicts of Interest: The following authors have nothing to disclose: VCM, CY, IP, HN, GB, LG, and CL. During the past 3 years, HLB has received grant support from the National Institutes of Health (NIH; National Heart, Lung, and Blood Institute) R15 HL117199, (National Institute of Diabetes and Digestive Kidney Diseases) U01DK065201; from Clinuvel, Inc; from Vertex, Inc. HLB has served as an adviser to Alnylam and Clinuvel. He has served as an expert defense witness (retained by the University of Utah) in litigation regarding acute porphyrias. During the past 3 years, KEA, MB, JRB, RJD, and JDP have received grant support from NIH [National Institute of Diabetes and Digestive and Kidney Diseases] U54 DK083909. RJD has served as a consultant to and has received research support from Alnylam.
Authorship: All authors had access to the data and played a role in writing this manuscript. Trial Registration: clinicaltrials.gov identifier: NCT01561157
