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porphyria
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References
These sources were used to develop the Genetics Home Reference
condition summary
on porphyria.
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15;142(6):439-50. Review. Erratum in: Ann Intern Med. 2005 Aug 16;143(4):316.
PubMed citation
Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review.
PubMed citation
Chemmanur AT, Bonkovsky HL. Hepatic porphyrias: diagnosis and management. Clin Liver Dis. 2004 Nov;8(4):807-38, viii. Review.
PubMed citation
Dombeck TA, Satonik RC. The porphyrias. Emerg Med Clin North Am. 2005 Aug;23(3):885-99, x. Review.
PubMed citation
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review.
PubMed citation
Lecha M, Herrero C, Ozalla D. Diagnosis and treatment of the hepatic porphyrias. Dermatol Ther. 2003;16(1):65-72. Review.
PubMed citation
Murphy GM. Diagnosis and management of the erythropoietic porphyrias. Dermatol Ther. 2003;16(1):57-64. Review.
PubMed citation
Nordmann Y, Puy H. Human hereditary hepatic porphyrias. Clin Chim Acta. 2002 Nov;325(1-2):17-37. Review.
PubMed citation
Peters TJ, Sarkany R. Porphyria for the general physician. Clin Med. 2005 May-Jun;5(3):275-81. Review.
PubMed citation
Sarkany RP. Making sense of the porphyrias. Photodermatol Photoimmunol Photomed. 2008 Apr;24(2):102-8. Review.
PubMed citation
Sassa S. The porphyrias. Photodermatol Photoimmunol Photomed. 2002 Apr;18(2):56-67. Review.
PubMed citation
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008 Sep;83(3):408-14. Epub 2008 Sep 4.
PubMed citation
Reviewed: July 2009
Published: May 21, 2012
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