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References

AIP

Dr. Michael Badminton, MBChB, PhD, FRCPath, Honorary Consultant and Clinical Lead, National Acute Porphyria Service (Cardiff), Medical Biochemistry & Immunology, University Hospital of Wales

Textbooks

  • Rowland LP. Acute Intermittent Porphyria. In: Merritt’s Neurology, 12th ed. Rowland LP, Pedley TA, eds. 2010 Lippincott Williams & Wilkins, Philadelphia, PA. Pp. 661-664.
  • Anderson KE. Acute Intermittent Porphyria. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:490-491.

Journal Articles

Internet

Years Published

1987, 1988, 1990, 1991, 1992, 1993, 1994, 1996, 1997, 1999, 2001, 2005, 2006, 2013, 2016

 

VP

Karl E. Anderson, MD, FACP, Division of Human Nutrition, Department of Preventive Medicine and Community Health; Director, Porphyria Laboratory & Center, University of Texas Medical Branch

Herbert Bonkovsky, MD, Adjunct Professor, Carolinas Medical Center, Cannon Research Center, and the American Porphyria Foundation

Textbooks

  • Bonkovsky HL, Hou W, Li T, Guo J-T, Narang T, Thapar M. Porphyrin and heme metabolism and the porphyrias. In Wolkoff A, Lu S, and Omary B (Eds). Comprehensive Physiology, 3:365-401, 2013. [The American Physiological Society, Bethesda, MD, Wiley and Co] [PMID: 23720291]
  • Phillips JD, Anderson KE. The porphyrias (Chapter 57). In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligson U, Prchal JT, eds. Williams Hematology, 8th edition. New York: McGraw-Hill 2010: 839-863.
  • Desnick RJ, Astrin KH, Anderson KE. Inherited porphyrias (Chapter 104). In: Rimoin DL, Conner JM, Pyeritz RE, Korf, BR, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics, 5th edition. Edinburgh: Churchill Livingston, 2007, pp 2331-2358.

Journal Articles

  • Bonkovsky HL, Maddukuri V, Yazici C, Anderson K, Bissell DM, Bloomer JR, Phillips J, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Acute porphyrias in the USA: features of 108 subjects from porphyria consortium. American Am J Med. 2014 Dec;127(12):1233-41. https://www.ncbi.nlm.nih.gov/pubmed/25016127
  • 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;55:1406-1414.
  • Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ: Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of Internal Medicine 2005;142:439-50.
  • Whatley SD, Puy H, Morgan RR, et al. 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.
  • Kirsch RE, Meissner PN, Hift RJ. Variegate Porphyria. Semin Liver Dis. 1998;18:33-41.

Internet

Years Published

1987, 1988, 1990, 1991, 1993, 1996, 1997, 2001, 2010, 2013, 2017

 

HCP

Peter Tishler, MD, Department of Medicine, Brigham and Women's Hospital, Channing Laboratory

Textbooks

  • Tishler P. The Porphyrias: Acute Porphyrias. In: Clinical Genomics: Practical Applications in Adult Patient Care, Murray MF, Babyatsky MW, Giovanni MA, editors. 2013 McGraw-Hill Professional, New York, NY. pp. 445-453.
  • Anderson KE. Variegate Porphyria and Hereditary Coproporphyria. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:494-495.

Journal Articles

Internet

  • Bissell DM, Wang B, Cimino T, Lai J. Updated:12/13/2012. Hereditary Coproporphyria. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2003. Available at http://www.genetests.org. Accessed on: July 2, 2013.
  • DeLoughery TG. Hereditary Coproporphyria. Emedicine Journal, January 10 2012. Available at: http://emedicine.medscape.com/article/205374-overview Accessed on: July 2, 2013.
  • Deybach JC. Hereditary Coproporphyria. Orphanet Encyclopedia, February 2009. Available at: www.orpha.net Accessed on: July 7, 2013.
  • McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:121300; Last Update: 05/06/2010. Available at: http://omim.org/entry/121300 Accessed on: July 7, 2013.

Years Published

1987, 1988, 1990, 1991, 1993, 1996, 1997, 2001, 2007, 2014

 

ADP

Joseph R. Bloomer, MD, Professor of Medicine and Genetics, Director of the Liver Center, Director of the Porphyria Center, University of Alabama at Birmingham

Textbooks

  • Strachan T and Read A. Human Molecular Genetics. 4th Edition. Garland Science, Taylor and Francis Group, LLC; New York, NY; 2011.
  • Lichtman MA, Beutler E, Kipps TJ, Selisohn U, et al. Eds. Williams Hematology. 7th ed. McGraw-Hill Companies. New York, NY; 2006:813-816.

Journal Articles

  • Jaffe EK, Stith L. ALAD Porphyria is a conformational disease. Am J Hum Genet. 2007;80:329-337.
  • Hedger RW, Wehrmacher WH, French AV. Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. Compr Ther 2006; 32(3) 163-171.
  • Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. 2006;134:281-292.
  • Akagi R, Kato N, Inoue R, Anderson KE, Sassa S. delta-aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. Mol Genet Metab. 2006;87:329-326.
  • Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Int Med 2005; 142:439-450.
  • Doss MO, Stauch T, Gross U, et al. The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis. 2004;27:529-536.

Internet

Years Published

1987, 1988, 1990, 1997, 2001, 2010, 2013, 2016

 

PCT

Ashwani K Singal, MD, MSc, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham

Textbooks

  • Porphyria Cutanea Tarda. In: Handbook of Iron Overload Disorders. Barton JC, Edwards CQ, Phatak PD, et al. (eds). 2010 Cambridge University Press, New York, NY. Pp. 160-168.
  • Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed. Scriver CR, Beaudet AL, Sly WS, et al. (eds). 2001 McGraw-Hill, New York, NY. Pp. 2991.
  • Anderson KE. Porphyria Cutanea Tarda. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:493-494.

Journal Articles

Internet

Years Published

1987, 1988, 1990, 1993, 1994, 1996, 1997, 2005, 2013, 2016

 

EPP

Manisha Balwani, MD, MS, Associate Professor, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

Textbooks

  • Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Basis of Inherited Disease. 8 ed. New York, NY: McGraw-Hill; 2001:2991-3062.

Review Articles

  • Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375:924–37.
  • Lecha M, Puy H, Deybach JC. Erythropoietic Protoporphyria. Orphanet J Rare Dis. 2009 Sep 10;4:19.

Journal Articles

  • Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ. Clinical, biochemical, and genetic characterization of North American patients with Erythropoietic Protoporphyria and X-linked protoporphyria. JAMA Dermatol. 2017;153:789–96.
  • Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ., Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing Erythropoietic Protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013;19:26–35
  • Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Molecular epidemiology of Erythropoietic Protoporphyria in the united kingdom. Br J Dermatol. 2010;162:642–6.
  • Minder EI, Schneider-Yin X, Steurer J, Bachmann LM. A systematic review of treatment options for dermal photosensitivity in Erythropoietic Protoporphyria. Cell Mol Biol (Noisy-le-grand) 2009;55:84–97.
  • 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;83:408–14.
  • Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. The penetrance of dominant Erythropoietic Protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002 Jan;30(1):27-8.
  • Bloomer JR. The liver in protoporphyria. Hepatology. 1988;8:402–7.

Internet

  • Balwani M, Bloomer J, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network (see Chapter Notes, Acknowledgments). Erythropoietic Protoporphyria, Autosomal Recessive. 2012 Sep 27 [Updated 2014 Oct 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK100826/ Accessed Feb. 15, 2018.
  • McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 177000; Available at: https://www.omim.org/entry/177000?search=177000&highlight=177000 Last Update: 11/16/2017. Accessed Feb. 15, 2018.

Years Published

1987, 1988, 1990, 1994, 1996, 1997, 2000, 2004, 2009, 2012, 2018

 

XLP

Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School

Maureen Poh-Fitzpatrick, MD, Professor Emerita and Special Lecturer (Dermatology), Columbia University College of Physicians and Surgeons

 

CEP

R.J. Desnick, PhD, MD, Professor and Chairman, and Dana O. Doheny, MS, CGC, Genetic Counselor, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University; and Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School

Journal Articles

  • Christiansen AL, Aagaard L, Krag A, Rasmussen LM, Bygum A. Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1988-2013. Acta Derm Venereol. 2016; [Epub Ahead of Print]
  • Di Pierro E, Brancaleoni V, Granata F. Advances in Understanding the Pathogenesis of Congenital Erythropoietic Porphyria. Br J Haematol. 2016; 173:165-379.
  • Egan DN, Yang Z, Phillips J, Abkowitz JL. Inducing iron deficiency improves erythropoiesis and photosensitivity in Congenital Erythropoietic Porphyria. Blood. 2015; 126:257-261.
  • Ben Bdira F, Gonzalez E, Pluta P, Lain A, Sanz-Parra A, Falcon-Perez JM, Millet O. Turning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of Congenital Erythropoietic Porphyria. Hum Mol Genet. 2014; 23:5805-5813.
  • Erwin A, Balwani M, Desnick RJ. Congenital Erythropoietic Porphyria. GeneReviews. 2013;
  • Blouin JM, Duchartre Y, Costet P, Lalanne M, Ged C, Lain A, Millet O, de Verneuil H, Richard E. Proc Natl Acad Sci U S A. 2013; 11:18238-12843.
  • Baran M, Eliacik K, Kurt I, Kanik A, Zengin N, Bakiler AR. Bullous skin lesions in a jaundiced infant after phototherapy: a case Congenital Erythropoietic Porphyria. 2013. 55:218-221.
  • Desnick RJ, Astrin KH. Congenital Erythropoietic Porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002;117(4):779-95.
  • Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe Congenital Erythropoietic Porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001;45(2):279-82.
  • Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol. 1998;16(2):295-8.
  • Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, et al. Congenital Erythropoietic Porphyria successfully treated by allogeneic bone marrow transplantation. Blood. 1998;92(11):4053-8.
  • Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital Erythropoietic Porphyria. J Am Acad Dermatol. 1997;36(4):594-610.

Internet

Years Published

1987, 1988, 1990, 1996, 1997, 2000, 2010, 2016

 

HEP

Ashwani K Singal, MD, MSc, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham

Journal Article

Internet