Scientific Advisory Board

 

 

Karl E. Anderson, MD, Chairman (profile)
University of Texas Medical Branch

D. Montgomery Bissell, MD (profile)
University of California

Joseph R. Bloomer, MD
University of Alabama

Herbert L. Bonkovsky, MD (profile)
Wake Forest Baptist Medical Center Winston-Salem, North Carolina

Sylvia S. Bottomley, MD
University of Oklahoma

Robert J. Desnick, PhD, MD (profile)
Mount Sinai School of Medicine

John H. Epstein, MD (profile)
University of California

Richard Galbraith, MD, PhD
University of Vermont

Micheline M. Mathews-Roth, MD (profile)
Harvard University School of Medicine

Claus A. Pierach, MD
University of Minnesota

Neville Pimstone, MD, PhD
University of California

Maureen B. Poh-Fitzpatrick, MD
University of Tennessee

Steven Shedlofsky, MD (profile)
University of Kentucky

Peter V. Tishler, MD (profile)
Harvard University School of Medicine

 

Protect the Future

The following doctors and scientists are participants in the APF Protect the Future program to develop the next generation of porphyria experts. They work directly with members of the APF Scientific Advisory Board as part of a rigorous program of study, clinical and laboratory work, research and publishing. Read more about this pioneering project.

Manisha Balwani, MD
Mount Sinai Medical Center

Bradley Freilich, MD
Kansas City, MO

Jennifer Guy, MD
University of California, San Francisco

Chul Lee, PhD
University of Texas Medical Branch-Galveston

Lawrence Liu, MD
Mount Sinai Medical Center

Charles Marques Lourenço, MD
University of São Paulo, Brazil

Brendan McGuire, MD
University of Alabama-Birmingham

Tarun Narang, MD
Carolinas Medical Center

Sherif Abdel-Rahman, PhD
University of Texas Medical Branch-Galveston

Gagan Sood, MD
Baylor College of Medicine

Manish Thapar, MD
University of Missouri

Jeffrey Wickliffe, PhD
Tulane University

 

Below is a list of some of the Porphyrias Research Consortium (PC) publications.  The PC includes Drs.  Karl Anderson, Montgomery Bissell, Joseph Bloomer, Herbert Bonkovsky, Robert Desnick, John Phillips. There are a number of other texts ready for publication.   All PC members are also members of the APF Scientific Advisory Board.  We hope as you read this list of publications, you will appreciate the depth of knowledge of our experts and their dedication to porphyria patients.  At a recent meeting, the experts said,  "Because our retirement is approaching, we must train as many future experts as possible lest our fifty years of expertise is lost."   

 

RDCRN Porphyrias Consortium Publication List

 

Peer Reviewed

1.    Gunn GB, Anderson KE, Patel AJ, Gallegos J, Hallberg C, Sood G, Hatch SS, Sanguineti, G: Severe radiation therapy-related soft tissue toxicity in a patient with porphyria cutanea tarda: case report and review of the literature. Head and Neck. 2010; 32:1112-7. PMID: 19536857; PMCID: PMC2891307

2.    Hou W, Tian Q, Zheng J, Bonkovsky HL. Zinc mesoporphyrin induces rapid proteasome-mediated degradation of hepatitis C non-structural 5A protein in human hepatoma cells. Gastroent. 2010; 138:1909-19. PMID: 19909748; PMCID: PMC2860067

3.    Jalil S; Grady JJ, Lee C, Anderson KE, Associations among behavior-related susceptibility factors in porphyria cutanea tarda.  Clin Gastroenterol Hepatol. 2010; 8:297-302. PMID: 19948245; PMCID: PMC2834813

4.    Bishop DF, Clavero S, Mohandas N, Desnick RJ.  Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.  Mol Med. 2011; 17:748-56. PMID: 21365124; PMCID: PMC3146604

5.    Boynton TO, Gerdes S, Craven SH, Neidle EL, Phillips JD, Dailey HA. Discovery of a Gene Involved in a Third Bacterial Protoporphyrinogen Oxidase Activity through Comparative Genomic Analysis and Functional Complementation.  Appl Environ Microbiol. 2011;77:4795-801. PMID: 21642412; PMCID: PMC3147383

6.    Dailey HASepter ANDaugherty LThames DGerdes SStabb EVDunn AKDailey TAPhillips JD. The Escherichia coli Protein YfeX Functions as a Porphyrinogen Oxidase, Not a Heme Dechelatase. MBio. 2011; 8; 2. PMID: 22068980; PMCID: PMC3215433

7.    Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ.  Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.  J Inherit Metab Dis. 2011; 34:225-31. PMID: 21103937; PMCID: PMC3091031

8.    Huang ZChen KXu TZhang JLi YLi WAgarwal AKClark AMPhillips JDPan X. Sampangine inhibits heme biosynthesis in both yeast and human. Eukaryot Cell. 2011; 10:1536-44. PMID: 21908598; PMCID: PMC3209050

9.    Hwang SI, Lee YY, Park JO, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL.  Effects of a single dose of oral iron on hepcidin concentrations in human urine and serum analyzed by a robust LC-MS/MS method.  Clin Chim Acta. 2011; 412: 2241-2247. PMID:  21867695; PMCID: PMC3207492

10.  Lakner, A, Bonkovsky HL, Schrum L.  MiRNA’s:  fad or future of liver disease.  World J Gastroent. 2011;17: 2536-42. PMID: 21633658; PMCID: PMC3103811

11.  Li T, Bonkovsky HL, Guo J-T.  Structural analysis of heme proteins:  implications for design and prediction. BMC Struct Biol. 2011; 11:13. PMID: 21371326; PMCID: PMC3059290

12.  Lorenzo FR, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Molecular Basis of Two Novel Mutation Found in Type I Methemoglobinemia. Blood Cells Mol Dis. 2011; 46:277-81. PMID: 21349748; PMCID: PMC3075332

13.  Phillips JD, Kushner JP, Bergonia HA, Franklin MR. Uroporphyria in the Cyp1a2-/- mouse.Blood Cells Mol Dis. 2011; 15:249-254. PMID: 21880518; PMCID: PMC3223295 

14.  Tian Q, Li T, Hou W, Zheng J, Schrum LW, Bonkovsky HL.  Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.  J Biol Chem. 2011; 286:26424-30. PMID: 21659532; PMCID: PMC3143606

15.  To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol. 2011; 165:499-505. PMID: 21668429

16.  Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J. Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood. 2011; 117:5494-502. PMID: 21310927; PMCID: PMC3109720

17.  Wang Y, Langer NB, Shaw GC, Yang G, Li L, Kaplan J, Paw BH, and Bloomer JR:  Abnormal Mitoferrin-1 expression in patients with erythropoietic protoporphyria.  Exp Hematology. 2011; 39:784-794. PMID: 21627978; PMCID: PMC3143264

18.  Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Grady JJ, Desnick RJ, Anderson KE, CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Mol Med. 2011; 17:241-247. PMID: 20957336; PMCID: PMC3060985

19.  Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C.  A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci. 2011; 879:2389-96. PMID: 21783436; PMCID: PMC3269068

20.  Caballes FR, Hossein S, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012; 32:880-93. PMID: 22510500; PMCID: PMC3418709

21.  Bonkovsky HL. Risk factors for porphyria cutanea tarda—the iron/HFE connection. Liver Int. 2012; 33:162. PMID: 23121614

22.  Balwani M. Desnick R.J. The Porphyrias: Advances in Diagnosis and Treatment. Hematology Am Soc Hematol Educ Program. 2012; 2012:19-27. PMID: 23233556

23.  Balwani M. Desnick R.J. The Porphyrias: Advances in Diagnosis and Treatment. Blood. 2012; 120:4496-504. PMID: 22791288; PMCID: PMC3512229

24.  Singal AK, Kormos-Hallberg C, Lee C, Sadagoparamanujam VM, Grady JJ, Freeman DH, Anderson KE.  Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2012; 10:1402-9. PMID: 22985607; PMCID: PMC3501544

25.  Singal AK, Gou E, Albuerne M, Hallberg CK, Anderson KE. Relapse of PCT after achieving remission with phlebotomy or low dose hydroxychloroquine. Hepatology 2013; 58:299A

26.  Bonkovsky HL, Hou W, Steuerwald N, Tian Q, Parsons J, Hamilton A, Hwang S, Schrum L.  Heme status affects human hepatic messenger RNA and microRNA expression.  World J Gastroenterology 2013; 19: 1593-1601.  PMID 23538684; PMCID: PMC3602476

27.  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. Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid 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. PMID: 23364466; PMCID: PMC3646094

28.  Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase gain-of-function mutations causing X-Linked Protoporphyria. Mol Med. 2013; 19:18-25. PMID: 23348515; PMCID: PMC3592931

29.  Larion S, Caballes FR, Hwang S-I, Lee J-G, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Groseclose G, Finkielstein CV, Bonkovsky HL. Circadian rhythms in acute intermittent porphyria—a pilot study. Eur J Clin Invest. 2013; 43:727-39.  PMID: 23650938; PMCID PMC3687345

30.  Clavero, S., Ahuja, Y., Bishop, D.F., Giger, U., Kwait, B., Haskins, M.E., and Desnick, R.J.: Feline Porphyria: Two novel mutations causing acute intermittent porphyria. Molecular studies faciltate accurate diagnosis of erythrodontia. Vet. Med. 2013 Epub ahead of print PMID: 24239138 PMCID: PMC3963809

31.  Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014. 60: 1082-89 PMID: 24700519

32.  Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, New MI, Liebow A, Fitzgerald K, Querbes W, Desnick RJ. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. PNAS. 2014 Epub ahead of print. PMID: 24821812

33.  Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, 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. Am J Med. 2014. Epub ahead of print.PMID: 25016127

34.  Bissell DM, Lai JC, Meister RK, Blanc PD. Role of Delta-aminolevulinic Acid in the Symptoms of Acute Porphyria. Am J Med. 2014 Nov 8. Epub ahead of print PMID: 25446301

35.  Besur S, Hou W, Schmeltzer P, Bonkovsky HL.  Clinically important features of porphyrin and heme metabolism and the porphyrias.  Metabolites, 2014; 4:977-1006. PMID: 25372274

36.  Brancaleoni VBalwani MGranata FGraziadei GMissineo PFiorentino VFustinoni S,Cappellini MDNaik HDesnick RJPierro ED. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked Protoporphyria. Clin Genet. 2015. Epub ahead of print. PMID: 25615817

 

Chapters in Medical Textbooks

37.  Phillips, J.D., Kushner, J.P.  The porphyrias. In: Hematology of Infancy and Childhood, Saunders, 2008.

38.  Sood G, Anderson KE: Porphyrias. in Crowther MA, Ginsberg J, Schunemann H, Meyer RM, Lottenberg R (eds): Evidence-Based Hematology, Hoboken, Wiley, 2008. pp 229-237.

39.  Sood, G, Anderson KE: Porphyria Cutanea Tarda.  In: Best Practice, BMJ Publishing Group, 2008. 

40.  Anderson KE, Sood, G: Acute intermittent porphyria.  In: Best Practice, BMJ Publishing Group, 2008. 

41.  Phillips, J.D., Anderson, K.  Porphyria. In: A practical handbook to Williams Hematology, McGraw-Hill 2010, Chapter 57, pp 839-863.

42.  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. 

43.  Anderson KE, Lee C, Balwani M, Desnick RJ.  The porphyrias (Chapter 85).  In: Kliegman RM, Stanton BMD, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics, 19th edition. Philadelphia: Elsevier, 2011, pp 517e1-e17. 

44.  Anderson KE. The porphyrias (Chapter 217). In: L. Goldman and A.I. Schafer, eds. Goldman’s Cecil Medicine, 24th edition, Philadelphia, Elsevier Saunders 2012:1363-71. 

45.  Lourenco, CM, Lee, C, Anderson KE. Disorders of heme biosynthesis (Chapter 37). In: Saudubray J-M, Van den Berghe G, Walter, JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th edition. Berlin:Springer-Verlag; 2012: 519-532. 

46.  Phillips, J.D.  Side chain modification during heme biosynthesis. In: Handbook of Porphyrin Sciences, Academic Press 2012, Vol. 19, Chapter 91, pp 283-337. 

47.  Bonkovsky HL, Hou W, 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, 3:1-37, 2013. PMID: 23720291

48.  Gou E, Anderson KE. The Porphyrias.  In: Hamblin MR, Huang YY, eds. Handbook of Photomedicine. Philadelphia, CRC Press, Taylor and Francis, 2014: 123-132.

49.  Besur S, Bonkovsky HL. The porphyrias. Encyclopedia of Life Sciences, John Wiley and Co, London, UK, 2014.

50.  Bissell DM. The porphyrias. In Rosenberg RN, Pascual JM, eds. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th Edition. Academic Press, Chapter 66, pp 725-43. 2014.

51.  Desnick RJ, Balwani MB, Anderson KE. Heme Biosynthesis and the Porphyrias. In: Liver Diseases in Children, Fourth Ed., Suchy FJ, Sokol RJ, Balistreri WF, eds., Cambridge University Press, 2014:509-525

52.  Anderson KE. Clinical and Laboratory Diagnosis of the Porphyrias, In: Ferreira GC, Kadish KM, Smith K, Guilard R eds. Handbook of Porphyrin Science. Hackensack, World Scientific Publishing Co., 2013: 370-415

53.  Anderson KE. Porphyrias – acute manifestations, In: Loriaux L, ed. Endocrine Emergencies. New York, Springer/Humana Press, Contemporary Endocrinology Vol. 74, 2014: 241-261.

54.  Singal AK, Phillips J. Porphyria cutanea tarda and related disorders. In: The Porphyrins Handbook. Eds. Kadish K, Smith K, Guilard R, Ferrira G, Elsevier Science, 2014; 29: 219-262

 

Online resources

55.  Anderson KE: Porphyria – an Overview.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010

56.  Bloomer JR.  ALAD Porphyria.  National Organization for Rare Disorders (NORD) Database, Danbury, CT, 2010.

57.  Singal, AK, Anderson KE: Porphyria cutanea tarda and hepatoerythropoietic porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010

58.  Singal, AK, Anderson KE: Variegate Porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010

59.  Sood, G, Anderson KE: Etiology and pathogenesis of acute intermittent porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010. 

60.  Sood, G, Anderson KE: Clinical manifestations and diagnosis of acute intermittent porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010. 

61.  Sood, G, Anderson KE: Management of acute intermittent porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010. 

62.  Bloomer JR: Managing acute porphyrias: practice considerations in inpatient and outpatient settings. Medscape Education Gastroenterology, 2010.

63.  Mittal, S, Anderson KE: Erythropoietic protoporphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2011.

64.  Balwani M, Bloomer J, Desnick RJ. Porphyrias Consortium of the RDCRN. Erythropoietic Protoporphyria, Autosomal Recessive. Gene Reviews, 2012. Updated October 2014 PMID 23016163

65.  Bissell M, Wang B, Cimino T, Lai J. Porphyrias Consortium of the RDCRN. Hereditary Coproporphyria. Gene Reviews, 2012. PMID 23236641

66.  Anderson KE: Congenital erythropoietic porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2013

67.  Anderson KE: ALA dehydratase porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2013. 

68.  Anderson KE: Porphyria, variegate.  National Organization for Rare Disorders (NORD) Rare Disease Database, Danbury, CT, 2010, updated 2013.

69.  Balwani M, Bloomer J, Desnick RJ. Porphyrias Consortium of the RDCRN. X-Linked Protoporphyria. Gene Reviews, 2013. PMID 23409301

70.  Liu L, Phillips J, Bonkovsky HL. Porphyrias Consortium of the RDCRN. Porphyria Cutanea Tarda, Type II. Gene Reviews, 2013. PMID 23741761

71.  Liu L, Phillips J, Bonkovsky HL. Porphyrias Consortium of the RDCRN. Hepatoerythropoietic Porphyria. Gene Reviews, 2013. PMID 24175354

72.  Singal AK, Anderson KE: Porphyrias Consortium of the RDCRN. Variegate Porphyria. Gene Reviews, 2013. PMID 23409300

73.  Erwin A, Balwani M, Desnick RJ: Porphyrias Consortium of the RDCRN. Congenital Erythropoietic Porphyria. Gene Reviews, 2013. PMID 24027798

 

Presented Abstracts

74.  Bishop DF, Tchaikovskii V, Nazarenko I, Balwani M, Doheny D, Desnick RJ.  Expression and characterization of the ALAS2 carboxy-terminal gain-of-function mutations causing X-linked Protoporphyria. Presented at the 12th International Congress of Human Genetics/The American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, October 14, 2011.

75.  Doheny D., Nazarenko I., Balwani M., Liu L., Naik H., Anderson K., Bissell D.M., Bloomer J., Bonkovsky H., Kushner J., Phillips J., Bishop D., Desnick R.J.  Erythropoietic Protoporphyrias:  Frequency of Mutations in the Ferrochelatase Gene Causing Autosomal Recessive Erythropoietic Protoporphyria and Mutations in the 5’-Aminolevulinate Synthase 2 Gene Causing X-Linked Protoporphyria. Presented at the 12th International Congress of Human Genetics/The American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, October 13, 2011.

76.  Hou W, Tian Q, Lu QL, Schrum WL, Bonkovsky HL. Zinc protoporphyrin, a novel endogenous HCV NS3-4A protease inhibitor, displays anti-viral activity.  Presented at the 62ndAnnual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.

77.  Tian Q, Hou W, Steuerwald NM, Schrum WL, Bonkovsky HL. Heme markedly up-regulates RNA-binding motif protein 24 gene expression in human hepatocytes.  Presented at the 62ndAnnual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.

78.  Tian Q, Hou W, Zheng J, Schrum WL, Bonkovsky HL. LONP1-dependent breakdown of mitochondrial 5-aminolevulinicacid synthase protein by heme in human liver cells.  Presented at the 62nd Annual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.

79.  Hwang S-I, Lee Y-Y, Park J-O, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL.  The measurement of hepcidin from human urine and serum to study effects of a single dose of oral iron by an optimized LC-MS/MS method. Presented at the 62nd Annual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.

80.  Singh, A, Pierson, K, Wilkinson, G, Anderson, K. Porphyrias: Prevalence and Frequency of Testing in a National Health Care Database. Presented at the 63rd Annual Meeting of AASLD, Boston, MA, November 9-13, 2012.

81.  Ludtke A, Yasuda M, Lin G, Clavero S, Nazarenko I, Jungmin K, Doheny D, Balwani M, Desnick RJ. Acute Intermittent Porphyria: Identification of 23 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Six Novel Missense Mutations. Presented at the ACMG Annual Clinical Genetics Meeting, Phoenix, AZ, March 19-23, 2013.

82.  Balwani M, Bishop DF, Nazarenko I, Yasuda M, Doheny D, Dailey HA, Liu L, Anderson KE, Bissell DM, Bloomer JR, Bonkovsky HL, Phillips JD, Desnick RJ. Mutation analysis of 155 North American Patients with Erythropoietic Protoporphyria reveals novel Ferrochelatase Mutations and a high prevalence of X-Linked Protoporphyria due to previous and novel 5-Aminolevulinate Synthase 2 mutations.  Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

83.  Balwani M, Naik H, Peter I, Anderson KE, Bissell DM, Bloomer JR, Bonkovsky HL, Phillips JD, Desnick RJ. Erythropoietic Protoporphyria and X-Linked Protoporphyria in the United States: Results from the Longitudinal Study of the NIH/RDCRN Porphyrias Consortium. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

84.  Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

85.  Gou EW, Singh A, Pierson KS, Wilkinson GS, Anderson KE. Frequency of Porphyria Testing in a National Health Care Database. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

86.  Larion S, Caballes FR, Hwang S-I, Lee J-G, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Yazici C, Groseclose G, Finkielstein CV, Bonkovsky HL.  Circadian rhythms in acute intermittent porphyria—a pilot study. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

87.  Mittal S, Yasuda M, Desnick RJ, Anderson KE. Metabolic Analysis in Transgenic Mouse Models of Acute Intermittent Porphyria (AIP). Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

88.  Naik H, Balwani M, Doheny D, Liu L, Desnick RJ. Experience with a Pilot Skype Internet Support Group for Symptomatic Patients with Acute Intermittent Porphyria. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

89.  Ludtke A, Yasuda M, Gan L, Clavero-Villarrub S, Nazarenko I, Kim J, Doheny D, Balwani M, Desnick RJ. Acute Intermittent Porphyria: Identification of 19 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Four Novel Missense Mutations. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

90.  Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Desnick RJ, Phillips JD, Naik H, Gandolfo L, Light C, Bonkovsky HL.  Acute intermittent porphyria [AIP] in the United States:  features of the first 82 cases enrolled in the longitudinal study of the porphyria consortium [PC].  Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

91.  Phillips JD, Warby C, Bergonia H, Marcero J, Parker C, Franklin M. Porphyria studies in Cyp1A2-/- and wild type mice suggest that heme regulation of ALA-synthase transcription and mitochondrial membrane translocation can be separated based on heme supply-and-demand. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

92.  Singal AK, Jampana SC, Kormos-Hallberg C, Anderson KE. Low-dose hydroxychloroquine to treat or prevent relapse of porphyria cutanea tarda during hepatitis C treatment. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

93.  Singal AK, Gou EW, Albuerne M, Kormos-Hallberg C, Anderson KE. Relapse of porphyria cutanea tarda after achieving remission with phlebotomy or low dose hydroxychloroquine. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

94.  Yazici C, Maddukuri VC, Anderson KE, Bissell DM, Bloomer JR, Desnick RJ, Phillips JD, Naik H, Gandolfo L, Light C, Bonkovsky HL.  Hereditary coproporphyria [HCP] and variegate porphyria [VP] in the United States:  Initial results from the longitudinal study of the porphyria consortium [PC].  Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

95.  Wang B, Bissell DM, Lai J, Cimino T, Porphyrias Consortium. A Combined Clinical Index for the Diagnosis of Acute Porphyria. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.

96.  Ludtke A, Yasuda M, Balwani M, Liu L, Arvelakis A, Naik H, Clavero S, Bishop D, Phillips J, Ramanujam S, Anderson K, Yu C, Florman SS, Desnick RJ. First US Orthotopic Liver Transplant for Intractable Acute Intermittent Porphyria. Presented at The American Society of Human Genetics 63rd Annual Meeting, Boston, MA, October 22-26, 2013.

97.  Gou E , Weng C, Phillips JD, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Anderson KE. Variability in erythrocyte and plasma porphyrin levels in erythropoietic protoporphyria and x-linked protoporphyria. Presented at the American College of Gastroenterology Annual Meeting, Philadelphia, PA, October 20-22, 2014.

 

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1.    http://academicmedicineblog.org/the-porphyria-research-consortium-a-partnership-between-the-american-porphyria-foundation-and-physician-researchers/.