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research

Publications

Spotlight: Our Scientific Advisory Board members are leaders in the field whose research is focused on improving the lives of people with the porphyrias. Explore some of their recent works.

 

Full List of Publications from the NIH-Supported Porphyrias Consortium:

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 HA, Septer AN, Daugherty L, Thames D, Gerdes S, Stabb EV, Dunn AK, Dailey TA, Phillips 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 Z, Chen K, Xu T, Zhang J, Li Y, Li W, Agarwal AK, Clark AM, Phillips JD, Pan 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 PMCID: PMC3818800
  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. PMID: 25016127
  34. Bossi K, Lee J, Schmeltzer P, Holburton E, Groseclose G, Besur S, Hwang S, Bonkovsky HL. Homeostasis of iron and hepcidin in erythropoietic protoporphyria. Eur J Clin Invest 2015;45 (10): 1032-1041. PMID 26199063
  35. Bissell DM, Lai JC, Meister RK, Blanc PD. Role of Delta-aminolevulinic Acid in the Symptoms of Acute Porphyria. Am J Med. 2015;128:313-7 PMID: 25446301
  36. 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
  37. Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Pierro ED. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked Protoporphyria. Clin Genet. 2015. Epub ahead of print. PMID: 25615817
  38. Bergonia HA, Frankling MR, Kushner JP, Phillips JD. A method for determining alpha- aminolevulinic acid synthase activity in homogenized cells and tissues. Clinical Biochemistry. 2015. Epub ahead of print. PMID: 25959086
  39. Butler DF, Ginn KF, Daniel JF, Bloomer JR, Kats A, Shreve N, Myers GD. Bone Marrow Transplant for X-linked protoporphyria with severe hepatic fibrosis. Pediatr Transplant. 2015. Epub ahead of print. PMID: 25856424
  40. Thawani R, Moghe A, Idhate T, Kalra M, Mahajan A, Anderson KE. Porphyria Cutanea Tarda in a Child with Acute Lymphoblastic Leukemia. QJM. 2015. Epub ahead of print.
  41. Yasuda M, et al. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Mol Med 2015. In Press
  42. Gou E, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Phillips JD, Singal AK, Wang B, Keel S, Anderson KE. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. Clin Chem. 2015;61:1453-6 PMID:26482161
  43. Bonkovsky HL, Besur S, Schmeltzer P. Acute porphyrias—an update for emergency physicians. Journal of Emergency Medicine. 2015, 49(3):305-312. PMID: 26159905
  44. Farrell CP, Overbey JR, Naik H, Nance D, McLaren GD, McLaren CE, Zhou L, Desnick RJ, Parker CJ, Phillips JD. The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PLoS One. 2016;11(9):e0163322.
  45. Naik H, Stoecker M, Sanderson SC, Balwani M, Desnick RJ. Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. Mol Genet Metab. 2016;119(3):278-283
  46. Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat. 2016;37(11):1215-1222
  47. Sachar M, Anderson KE, Ma X. Protoporphyrin IX: the Good, the Bad, and the Ugly. J Pharmacol Exp Ther. 2016;356(2):267-75.
  48. Balwani M, Singh P, Seth A, Debnath EM, Naik H, Doheny D, Chen B, Yasuda M, Desnick RJ. Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab. 2016;119(4):295-299.
  49. Lane A, McKay J, Bonkovsky HL. Advances in the Management of Erythropoietic Protoporphyria – Role of Afamelanotide. Application of Clinical Genetics. 2016. Epub
  50. Arora S, Young S, Kodali S, Singal AK. Hepatic porphyria: A narrative review. Indian J Gastroenterol. 2016. Epub
  51. 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;153:789-796 PMID:28614581
  52. Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Acute Hepatic Porphyrias: Recommendations for Evaluation and Long Term Management. Hepatology. 2017;66(4):1314- 1322. PMID: 28605040
  53. Marion B, Rejeski J, Rudnick S, Bonkovsky HL. Porphyrias—an overview and update for physicians and their staffs. Archives Medical Research. 2017;5(9):1-22.
  54. Singal AK, Venkata KVR, Jampana S, Islam F-U, Anderson KE. Hepatitis C treatment in patients with porphyria cutanea tarda. American Journal of Medical Sciences 2017, 353(6): 523-528. PMID: 28641714. PMCID: PMC5484053
  55. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. NEJM. 2017;377:862-72. PMID: 28854095
  56. Attarian S, Yu C, Anderson KE, Friedman EW, Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure. Blood Advances 2017;1:915-917
  57. Corden, M; Frediani, J; Xu, F; Liu, Q; Chen, S-Y; Bissell, D M; Ostrom, K M. An 18-Year-Old with Acute-on-Chronic Abdominal Pain. Pediatrics. 2018;141(5). pii: e20171332. PMID: 29636397
  58. Salameh H, Sarairah H, Rizwan M, Kuo YF, Anderson KE, Singal AK. Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis. Br J Dermatol. 2018 Epub PMID: 29750336
  59. Indika NLR, Kesavan T, Dilanthi HW, Jayasena KLSPKM, Chandrasiri NDPD, Jayasinghe IN, Piumika UMT, Vidanapathirana DM, Gunarathne KDAV, Dissanayake M, Jasinge E, Arachchi WK, Doheny D, Desnick RJ. Many pitfalls in diagnosis of acute intermittent porphyria: a case report. BMC Res Notes. 2018;11(1):552. PMID: 30071891
  60. Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazrenko I, Phillips JD, Desnick RJ, Yasuda M. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. J Inherit Metab Dis. 2018 Epub. PMID: 29594648
  61. Lala SM, Naik H, Balwani M. Diagnostic Delay in Erythropoietic Protoporphyria. J Pediatr. 2018 Epub PMID: 30041937
  62. Wang B, Rudnick S, Cengia B, Bonkovsky HL. Acute Hepatic Porphyrias--Review and Recent Progress. Hepatology Communications. 2018 In press.
  63. Gou E, Weng C, Greene T, Anderson KE, Phillips JD. Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria. Journal of Applied Laboratory Medicine. 2018 Epub.
  64. Jaramillo-Calle DA, Solano JM, Rabinstein AA, Bonkovsky HL. Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction. Mol Genet Metab. 2019 Nov;128(3):242-253. PMID: 31706631.
  65. Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips JD. Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Mol Genet Metab. 2019 Nov;128(3):309-313. PMID: 31395332; PMCID: PMC6911826.
  66. Phillips JD. Heme biosynthesis and the porphyrias. Mol Genet Metab. 2019 Nov;128(3):164-177. PMID: 31326287; PMCID: PMC7252266.
  67. Dixon N, Li T, Marion B, Faust D, Dozier S, Molina A, Rudnick S, Bonkovsky HL. Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias. Mol Genet Metab. 2019 Nov;128(3):228-235. PMID: 31153822; PMCID: PMC6864263.
  68. Bonkovsky HL, Dixon N, Rudnick S. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). Mol Genet Metab. 2019 Nov;128(3):213-218. PMID: 30987916; PMCID: PMC6754303.
  69. Chen B, Wang M, Gan L, Zhang B, Desnick RJ, Yasuda M. Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP. Mol Genet Metab. 2019 Nov;128(3):382-390. PMID: 30777612; PMCID: PMC6612539.
  70. Yasuda M, Desnick RJ. Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. Mol Genet Metab. 2019 Nov;128(3):332-341. PMID: 30737139; PMCID: PMC6639143.
  71. Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study. Mol Genet Metab. 2019 Nov;128(3):314-319. PMID: 30711301; PMCID: PMC6660424.
  72. Balwani M. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019 Nov;128(3):298-303. PMID: 30704898; PMCID: PMC6656624.
  73. Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: Recent advances. Mol Genet Metab. 2019 Nov;128(3):288-297. PMID: 30685241; PMCID: PMC6597325.
  74. Singal AK. Porphyria cutanea tarda: Recent update. Mol Genet Metab. 2019 Nov;128(3):271-281. PMID: 30683557.
  75. Pulgar VM, Yasuda M, Gan L, Desnick RJ, Bonkovsky HL. Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria. Mol Genet Metab. 2019 Nov;128(3):376-381. PMID: 30639047; PMCID: PMC6612470.
  76. Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Mol Genet Metab. 2019 Nov;128(3):320-331. PMID: 30594473; PMCID: PMC6542720.
  77. Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. Mol Genet Metab. 2019 Nov;128(3):363-366. PMID: 30514647; PMCID: PMC8132452.
  78. Weiss Y, Balwani M, Chen B, Yasuda M, Nazarenko I, Desnick RJ. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. Mol Genet Metab. 2019 Nov;128(3):358-362. PMID: 30454868.
  79. Phillips J, Farrell C, Wang Y, Singal AK, Anderson K, Balwani M, Bissell M, Bonkovsky H, Seay T, Paw B, Desnick R, Bloomer J. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. Mol Genet Metab. 2019 Nov;128(3):391-395. PMID: 30391163; PMCID: PMC7328821.
  80. Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. Mol Genet Metab. 2019 Nov;128(3):352-357. PMID: 30385147.
  81. Rudnick S, Bonkovsky HL. Hepatitis C and porphyria cutanea tarda in 2020. Aliment Pharmacol Therap, 2020, APT 15728; doi: 10.1111/apt.15728, invited editorial [PMID ] [PMCID: PMC journal in process----------- ].
  82. Li P, Maitra D, Kuo N, Bonkovsky H, Omary MB. Geographic prevalence variation and phenotype penetrance in porphyria: Insights from a Chinese population database.  Blood Advances, 2020, in press.
  83. Thapar M, Rudnick S, Bonkovsky HL. Givosiran, a novel treatment for acute hepatic porphyrias. Drug Profile for Expert Opinion of Orphan Drugs, Expert Collection, 2020, in press. [PMID ] [PMCID: journal in process]
  84. Honor A., Rudnick S, Bonkovsky HL. Givosiran to treat acute hepatic porphyrias. Drugs of Today, Clarivate Analytics, 2020, submitted. [PMID: ] [PMCID: journal in process].
  85. Massachi S, Epstein , Hurd J, Bonkovsky HL. Cost savings with Panhematin versus Givlaari for the treatment of patients with acute intermittent porphyria. J Med Econ 2020. Oct 12:1. Doi: 10.1080/13696998.2020. 1835306. [PMID: 33043761] [PMCID: journal in process].
  86. Gandhi-Mehta R, Baute-Penry V, Bonkovsky HL. Current and emerging therapeutic approaches for the acute hepatic porphyrias and porphyric neuropathy.  Submitted, 2020. [PMID ] [PMCID: journal in process]
  87. Kazamel M, Desnick RJ, Quigley JG. Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management. Curr Neurol Neurosci Rep. 2020 Oct 7;20(12):56. doi: 10.1007/s11910- 020-01078-8. Erratum in: Curr Neurol Neurosci Rep. 2020 Dec 10;21(1):1. PMID: 33026560.
  88. Balwani M, Sardh E, Ventura P, Peiro PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, DerWang J, Stein PE, Harper P, Vasiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon A, Gouya L, for the ENVISION Investigators. Phase 3 trial of RNAi therapeutic givosiran for acute intermittent porphyria. New Engl J Med 382: 2289-2301, 2020. [PMID: 30726693] [PMCID: journal in process.]
  89. Pourmehdi Lahiji A., et al., 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5- aminolevulinic acid synthase induction and long-term response to hemin. Molecular Genetics and Metabolism 131.4: 418- 423, 2020.
  90. Novel treatment options for acute hepatic porphyrias. Wang B.Curr Opin Gastroenterol. 2021 May 1;37(3):194-199. doi: 10.1097/MOG.0000000000000734.PMID: 33769375
  91. Porphyric neuropathy. Rachana K. Gandhi Mehta MD James B. Caress MD Sean R. Rudnick MD Herbert L. Bonkovsky MD. Muscle & Nerve. Invited Review. 31Mar20201. https://doi.org/10.1002/mus.27232

 

Chapters

  1. Phillips, J.D., Kushner, J.P. The porphyrias. In: Hematology of Infancy and Childhood, Saunders, 2008.
  2. 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.
  3. Sood, G, Anderson KE: Porphyria Cutanea Tarda. In: Best Practice, BMJ Publishing Group, 2008.
  4. Anderson KE, Sood, G: Acute intermittent porphyria. In: Best Practice, BMJ Publishing Group, 2008.
  5. Phillips, J.D., Anderson, K. Porphyria. In: A practical handbook to Williams Hematology, McGraw-Hill 2010, Chapter 57, pp 839-863.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Phillips, J.D. Side chain modification during heme biosynthesis. In: Handbook of Porphyrin Sciences, Academic Press 2012, Vol. 19, Chapter 91, pp 283-337.
  11. 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
  12. Caballes FR, Bonkovsky HL. Chronic porphyrias. In Clinical Decision Support: Gastroenterology and Hepatology. Bacon BR, Forsmark C, Spechler S [Eds]. Decision Support in Medicine LLC, Wilmington, DE, 2013.
  13. Gou E, Anderson KE. The Porphyrias. In: Hamblin MR, Huang YY, eds. Handbook of Photomedicine. Philadelphia, CRC Press, Taylor and Francis, 2014: 123-132.
  14. Besur S, Bonkovsky HL. The porphyrias. Encyclopedia of Life Sciences, John Wiley and Co, London, UK, 2014.
  15. 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.
  16. 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
  17. 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
  18. Anderson KE. Porphyrias – acute manifestations, In: Loriaux L, ed. Endocrine Emergencies. New York, Springer/Humana Press, Contemporary Endocrinology Vol. 74, 2014: 241-261.
  19. 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
  20. Lourenco CM, Anderson KE. Disorders of haem biosynthesis (Chapter 36). In: Saudubray J-M, Baumgartner MR, Walter, J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th edition. Berlin:Springer; 2016:515-527.
  21. Gou E, Phillips JD, Anderson KE. The porphyrias, In: Gilbert-Barness E, Barness L, Farrell PM, eds. Metabolic Diseases. Amsterdam: IOS Press BV; 2017: 543-575.
  22. Phillips JD, Anderson KE. The porphyrias (Chapter 58). In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligson U, Prchal JT, eds. Williams Hematology, 9th edition. New York: McGraw-Hill, 2016: 889-914.
  23. Balwani M, Desnick RJ, Anderson KE. The porphyrias. In: Kliegman RM, Stanton BMD, St. Geme J, Schor N, eds. Nelson Textbook of Pediatrics, 20th edition. Philadelphia: Elsevier, 2016: 756-773.
  24. Desnick, R.J. and Balwani, M.: The Porphyrias. In: Harrison’s Principles of Internal Medicine, 19th ed., Fauci, A.S, Braunwald, E., Kasper, D.L., Hauser, S.L., Longo, D.L., Jameson, J.L., and Loscalzo, J.: McGraw Hill Companies, Inc., New York
  25. Bottomley, SS Phillips, JD. (In Press 2018). Porphyrias (Chapter 28). In Wintrobe’s Clinical Hematology 14th Edition. Lippincott Williams & Wilkins.
  26. Gou E, Anderson KE. The porphyrias (Chapter 124), In: Amagai M, Bruckner A, Enk A, Margolis D, McMichael A, Orringer J, Kang S, eds. Fitzpatrick's Dermatology in General Medicine, 9th edition, in press

 

Brief Reports, Letters

  1. Bonkovsky HL. Risk factors for porphyria cutanea tarda—the iron/HFE connection. Liver International, 33: 162, 2013. [Liv Int 12—015; ISSN 1478-3223]
  2. Thapar M, Bonkovsky HL. Letter to Editor--Indications for liver transplant and AASLD guidelines. Hepatology 61 [1]: 408, 2015. DOI 10.1002/hep.27176.
  3. Wang B, Balwani M, Bonkovsky HL, Anderson KE, Bloomer JR, Bissell DM, Phillips JD, Desnick RJ, for the Porphyrias Consortium of the Rare Diseases Clinical Research Network. Is liver transplantation for intractable attacks of porphyria a viable treatment in a developing country? Reply to letter of Jaramillo
  4. Calle et al. in response to our Concise Review on Evaluation and Management of Acute Porphyrias. Hepatology 67 [2]: 803-804, 2018 DOI 10.1002/hep.29674.
  5. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. Response of authors to letters to editor from Sood et al and Jaramillo-Calle regarding our recent review on Porphyria. New Engl J Med 377: 2100- 2101, 2017.
  6. Saberi, Behnam & Naik, Hetanshi & Overbey, Jessica & Erwin, Angelika & Anderson, Karl & Bissell, D. & Bonkovsky, Herbert & Phillips, John & Wang, Bruce & Singal, Ashwani & B.M. McGuire, Brendan & Desnick, Robert & Balwani, Manisha. (2020). Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology. 10.1002/hep.31460.

 

Online resources

  1. Anderson KE: Porphyria – an Overview. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010
  2. Bloomer JR. ALAD Porphyria. National Organization for Rare Disorders (NORD) Database, Danbury, CT, 2010.
  3. Singal, AK, Anderson KE: Porphyria cutanea tarda and hepatoerythropoietic porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010, updated yearly.
  4. Singal, AK, Anderson KE: Variegate Porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010, updated yearly.
  5. Sood, G, Anderson KE: Etiology and pathogenesis of acute intermittent porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010, updated yearly.
  6. Sood, G, Anderson KE: Clinical manifestations and diagnosis of acute intermittent porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010, updated yearly.
  7. Sood, G, Anderson KE: Management of acute intermittent porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010, updated yearly.
  8. Bloomer JR: Managing acute porphyrias: practice considerations in inpatient and outpatient settings. Medscape Education Gastroenterology, 2010.
  9. Mittal, S, Anderson KE: Erythropoietic protoporphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2011, updated yearly.
  10. Balwani M, Bloomer J, Desnick RJ. Porphyrias Consortium of the RDCRN. Erythropoietic Protoporphyria, Autosomal Recessive. Gene Reviews, 2012. Updated October 2014 PMID 23016163
  11. Bissell M, Wang B, Cimino T, Lai J. Porphyrias Consortium of the RDCRN. Hereditary Coproporphyria. Gene Reviews, 2012. PMID 23236641
  12. Anderson KE: Congenital erythropoietic porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2013, updated yearly.
  13. Anderson KE: ALA dehydratase porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2013, updated yearly.
  14. Anderson KE: Porphyria, variegate. National Organization for Rare Disorders (NORD) Rare Disease Database, Danbury, CT, 2010, updated 2013.
  15. Balwani M, Bloomer J, Desnick RJ. Porphyrias Consortium of the RDCRN. X-Linked Protoporphyria. Gene Reviews, 2013. PMID 23409301
  16. Liu L, Phillips J, Bonkovsky HL. Porphyrias Consortium of the RDCRN. Porphyria Cutanea Tarda, Type II. Gene Reviews, 2013. PMID 23741761
  17. Liu L, Phillips J, Bonkovsky HL. Porphyrias Consortium of the RDCRN. Hepatoerythropoietic Porphyria. Gene Reviews, 2013. PMID 24175354
  18. Singal AK, Anderson KE: Porphyrias Consortium of the RDCRN. Variegate Porphyria. Gene Reviews, 2013. PMID 23409300
  19. Erwin A, Balwani M, Desnick RJ: Porphyrias Consortium of the RDCRN. Congenital Erythropoietic Porphyria. Gene Reviews, 2013. PMID 24027798
  20. Balwani, M. Erythropoietic Protoporphyria and X-Linked Protoporphyria. National Organization for Rare Disorders, 2018 (https://rarediseases.org/rare-diseases/erythropoietic-protoporphyria/)
  21. Moghe A, Phillips JD, and Anderson KE, 2016, Haem Biosynthesis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net
  22. Bonkovsky HL, McGuire B, Erwin A. Current perspectives in the diagnosis and treatment of acute intermittent porphyria. Medscape CME, https://urldefense.proofpoint.com/v2/url?u=https-3A www.medscape.org_viewarticle_931672&d=DwIGaQ&c=shNJtf5dKgNcPZ6Yh64b- A&r=o_tcHmhSCILxLAY8znMVJkz7QU5M4ow8tNr49eu3upY&m=K7DwY7IMOFqyl64_bAimgYCu5PYb5 g8G1cZ0WVV0KC8&s=81PrVHD414c5TAvW-fjTHC5BlEs_dJiiKys2LTwunvo&e= ; available online 05 June 2020.
  23. Bonkovsky HL. Givosiran, a new treatment for acute hepatic porphyrias. Invited Commentary on Balwani, Sardh et al New Engl J Med 2020; 382: 2289-2301. Benign Hematology Practice Update, Kkroll, M, Editor, Elsevier, Free Access Website, July 2020.
  24. Margaret Upchurch, Jonathan P. Donnelly, Emily Deremiah, Colleen Barthol, Shaheryer Hafeez, Karl E. Anderson, Ali Seifi. Hereditary Coproporphyria Mimicking Guillain-Barre Syndrome After COVID-1 Infection. Cureus. DOI 10.7759/cureus.21586

 

Presented Abstracts

  1. 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.
  2. 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.
  3. 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 62nd Annual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.
  4. 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 62nd Annual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. Naik H, Sanderson S, Balwani M, Desnick RJ. Psychosocial Issues in Acute Porphyria: A Qualitative Study of the Perspectives of Patients. Presented at the International Congress of Porphyrins and Porphyrias. September 16, 2015, Dusseldorf, Germany.
  26. Naik H, Doheny D, Overbey J, Srinivasan R, Desnick RJ. Molecular Diagnoses of Acute Hepatic Porphyrias: Comparisons of Mutation Positive Results for Various Physician Specialties. Presented at the International Congress of Porphyrins and Porphyrias. Dusseldorf, Germany. September 14-16, 2015.
  27. Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey J, Desnick RJ. Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP): Clinical, Biochemical and Molecular Characterization of North American Patients. Presented at the International Congress of Porphyrins and Porphyrias. Dusseldorf, Germany. September 14-16, 2015.
  28. Gou E, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Phillips JD, Singal A, Wang B, Anderson KE. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. Presented at the International Congress of Porphyrins and Porphyrias. Dusseldorf, Germany. September 14-16, 2015.
  29. Farrell C, Naik H, Overbey JR, Parker C, McLaren C, McLaren G, Phillips JD. Identification of Polymorphic GNPAT As a Risk Factor for Porphyria Cutanea Tarda. Presented at the American Society of Hematology Annual Meeting, Orlando, FL December 7, 2015.
  30. Sardh E, Harper P, Balwani M, Stein P, Rees D, Bloomer JR, Bissell DM, Desnick RJ, Parker C, Phillips J, Bonkovsky HL, Al-Tawil N, Penz C, Chan A, Soh C-H, Querbes W, Simon A, Anderson KE. Phase 1 randomized, placebo-controlled study of Givosiran, an investigational RNA interference (RNAi) therapeutic, in patients with acute intermittent porphyria: interim study results. Abstract presented at the Meeting of the Society for the Study of Inborn Errors of Metabolism (SSIEM)/International Congress of Inborn Errors of Metabolism (ICIEM), 2017, Rio de Janeiro, BR, 2017.
  31. Singal AK, Naik H, etc. Porphyria Cutanea Tarda: Profile of 189 patients from the Porphyrias Consortium in the United States. Presented at DDW, Chicago, IL May 8, 2017
  32. Gouya L, Bloomer JR, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick JR, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder EL, Windyga J, Martasek P, Cappellini M, Ventura P, Sardh E, Harper P, Sandberg S, Aarsand A, Alegre M, Ivanova A, Chan A, Soh CH, McCarthy K, Querbes W, Penz C, Simon A, Anderson KE. An analysis of healthcare utilization and costs associated with patients with acute hepatic porphyria (AHP) with recurrent attacks in EXPLORE: a prospective, multinational natural history study of patients with AHP. Abstract Po15 presented at the International Congress on Porphyrins and Porphyrias, Bordeaux, FR, June 20-25, 2017.
  33. Naik H, Overbey JR, Anderson KE, Bissell DM, Bloomer JR, Bonkovsky HL, Parker C, Phillips JD, Singal AK, Wang B, Liu L, Desnick RJ, Balwani M. Erythropoietic Protoporphyria: Disease Severity and Quality of Life. Presented at the International Congress of Porphyrins and Porphyrias. Bordeaux, France. June 25-28, 2017.
  34. Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial Issues in Erythropoietic Protoporphyria - The Perspective of Parents, Children and Young Adults. Presented at the International Congress of Porphyrins and Porphyrias. Bordeaux, France. June 25-28, 2017.
  35. Pulgar VM, Yasuda M, Gan L, Desnick RJ, Bonkovsky HL. Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria [AIP]. Abstract Po 40 presented at the International Congress on Porphyrins and Porphyrias, Bordeaux, FR, June 20- 25, 2017.
  36. Singal AK, Naik H, Overbey J, Balwani M, Liu L, Wang B, Parker C, Keel S, Erwin A, Levy C, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips J, Desnick RJ, Anderson KE. Porphyria Cutanea Tarda: Profile of 192 patients from the Porphyrias Consortium in the US. Presented at the International Congress of Porphyrins and Porphyrias. Bordeaux, France. June 25-28, 2017.
  37. Singal AK, Chacko B, Liu L, Balwani M, Wang B, Naik H, Parker C, Anderson KE, Bissell DM, Bonkovsky HL, Desnick RJ, Phillips JD, Bloomer JR, Darley-Usmar V. Mitochondrial Bioenergetics of Peripheral Blood Cells in Porphyria. Presented at the International Congress of Porphyrins and Porphyrias. Bordeaux, France. June 25-28, 2017.
  38. Gouya L, Bloomer JR, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick JR, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder EL, Windyga J, Martasek P, Cappellini M, Ventura P, Sardh E, Harper P, Sandberg S, Aarsand A, Alegre M, Ivanova A, Chan A, Soh CH, McCarthy K, Querbes W, Penz C, Simon A, Anderson KE. An analysis of healthcare utilization and costs associated with patients with acute hepatic porphyria (AHP) with recurrent attacks in EXPLORE: a prospective, multinational natural history study of patients with AHP. Abstract Po15 presented at the International Congress on Porphyrins and Porphyrias, Bordeaux, FR, June 20-25, 2017.
  39. Anderson KE. The value of longitudinal clinical and laboratory observations in the porphyrias. Presented at the International Congress of Porphyrins and Porphyrias. Bordeaux, France. June 25-28, 2017.
  40. Yasuda M, Bergonia HA, Parker C, Desnick RJ, Naik H, Anderson KE, Balwani M, Phillips JD. Cimetidine has minimal activity in reducing activity of ∂-Aminolevulinica Acid Synthase. Presented at the International Congress of Porphyrins and Porphyrias. Bordeaux, France. June 25-28, 2017.
  41. Sardh E, Harper P, Balwani M, Stein P, Rees D, Bloomer JR, Bissell DM, Desnick RJ, Parker C, Phillips J, Bonkovsky HL, Al-Tawil N, Penz C, Chan A, Soh C-H, Querbes W, Simon A, Anderson KE. Phase 1 randomized, placebo-controlled study of Givosiran, an investigational RNA interference (RNAi) therapeutic, in patients with acute intermittent porphyria: interim study results. Abstract # 800, presented at the 68th Annual Meeting of American Association for the Study of Liver Diseases, Oct 20-24, 2017, Washington, DC] Hepatology 66 [Suppl 1]: 427A, 2017.
  42. Gouya L, Bloomer JR, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick JR, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder EL, Windyga J, Martasek P, Cappellini M, Ventura P, Sardh E, Harper P, Sandberg S, Aarsand A, Alegre M, Ivanova A, Chan A, Soh CH, McCarthy K, Querbes W, Penz C, Simon A, Anderson KE. Explore: a prospective, multinational natural history study of patients with acute hepatic porphyria (AHP) with recurrent attacks. Presented at the 68th Annual Meeting of American Association for the Study of Liver Diseases, Oct 20-24, 2017, Washington, DC] Hepatology 66 [Suppl 1]: 2017.
  43. Sardh E, Gouya L, Bloomer JR, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PO, Minder EL, Windgya J, Martesek P, Cappellini M, Ventura P, Harper P, Sandberg S, Aarsand A, Alegre F, Ivanova A, Talbi N, Chan A, McCarthy K, Querbes W, Penz C, Simon A, Anderson KE. EXPLORE: a prospective, multinational natural history study of patients with acute hepatic porphyrias (AHP) with recurrent attacks. Abstract presented at 59th Annual Meeting of the American Society of Hematology [ASH], Dec 9-12 2017, Atlanta, GA. Blood 130: 2211, 2017.
  44. Bonkovsky HL. Acute hepatic porphyrias: metabolic defects, pathophysiology & clinical manifestations. Plenary abstract #3, presented at International Conference on Heme Biosynthesis and the Porphyrias, Recent Advances: Orlando, FL, Jan 12-14, 2018.
  45. Bonkovsky HL. AHPs: neurologic manifestations and their pathogenesis. Plenary abstract #18, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  46. Sardh E, Harper P, Balwani M, Stein P, Rees D, Bloomer J, Bissell DM, Desnick RJ, Parker C, Phillips JD, Bonkovsky HL, Al-Tawil N, Penz C, Chan A, Soh C-H, Querbes W, Simon A, Anderson KE. RNAi therapy for acute porphyrias. Plenary Abstract #22, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  47. Pulgar VM, Yasuda M, Gan L, Desnick RJ, Bonkovsky HL. Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria [AIP]. presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  48. Chen B, Aarsand A, Anderson KE, Balwani M, Bissell DM, Bonkovsky HL, Floderus Y, Frisma E, Gouya L, Harper P, Loskove Y, Phillips JD, Schmitt C, Wang B, Whatley S, Weiss Y, Desnick RJ. International porphyria molecular diagnostic collaborative: a joint international endeavor to verify the pathogenicity of the mutations underlying the porphyrias. Selected oral abstract # 7, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  49. Arora S, Johnson A, Naik H, Overbey J, Balwani M, Liu L, Wang B, Parker C, Keel S, Erwin A, Levy C, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ, Anderson KE, Singal AK. Porphyria cutanea tarda: profile of 193 patients from the porphyrias consortium in the United States. Abstract # P1, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  50. Kodali S, Chacko B, Kramer P, Ravi S, Balwani M, Wang B, Naik H, Parker C, Anderson KE, Bissell DM, Bonkovsky HL, Desnick RJ, Phillips JD, Bloomer JR, Darley-Usmar V, Singal AK. Mitochondrial cellular bioenergetics in patients with porphyria. Abstract # P13, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  51. Wang B, Kapoor Y, Zenhari S, Anderson KE, Desnick RJ, Phillips J, Bloomer JR, Bonkovsky HL, Bissell DM. Prevalence of chronic symptoms in carriers of a mutation for autosomal dominant acute porphyria: a prospective blinded study. Abstract # P19, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  52. Yarra P, Faust D, Bennett M, Bonkovsky HL. Clinical and financial benefits of prophylactic IV heme administration in acute porphyria. Abstract # P21, presented at International Conference on Heme Biosynthesis and the Porphyrias: Recent Advances, Orlando, FL, Jan 12-14, 2018.
  53. Phillips JD, Gouya L, Bloomer JR, Balwani M, Bissell DM, Rees DC, Stölzel U, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder EI, Winyga J, Martasek P, Cappellini M, Ventura P, Sardh E, Harper P, Sandberg S, Aarsand A, Alegre F, Ivanova A, Chan A, Rock S, Querbes W, Penz C, Simon A, Anderson KE. EXPLORE: a prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks. Abstract presented at Society for General Internal Medicine, Annual Meeting, Denver, CO, April, 2018.
  54. Gouya L, Balwani M, Bissell DM, Rees DC, Stölzel U, Kauppinen R, Langendonk JG, Desnick RJ, Deybach J-C, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder EI, Windyga J, Martasek P, Ceppellinin M, Ventura P, Sardh E, Harper P, Sandberg S, Aarsand A, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Penz C, Merkel M, Agarwal S, Simon A, Anderson KE. Impact of acute hepatic porphyrias on quality of life and work loss: an analysis of the EXPLORE natural history study. Abstract presented at European Conference on Rare Diseases and Orphan Products (ECRD), May, 2018.
  55. Gouya L, Bloomer JR, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillilps JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein P, Minder EL, Windyga J, Martasek P, Cappellini M, Ventura P, Sardh E, Harper P, Sandberg S, Aarsand A, Alegre F, Ivanova A, Talbi N, Chan A, McCarthy K, Querbes W, penz C, Agarwal S, Simon A, Anderson KE. An analysis of health-care utilization and costs associated with patients with acute hepatic prophyrias (AHPs) with recurrent attacks in EXPLORE: a prospective, multinational natural history study of patients with AHP. Abstract presented at ISPOR 23d Annual International Meeting (Research), Baltimore, MD, May 21, 2018.
  56. Manish Thapar, Sean Rudnick & Herbert L. Bonkovsky (2020): Givosiran, a novel treatment for acute hepatic porphyria, Expert Review of Precision Medicine and Drug Development, DOI: 10.1080/23808993.2021.1838275