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• Article

  Acute porphyrias in the USA: Features of 108 subjects from porphyrias consortium

  Bonkovsky, H. L., Maddukuri, V. C., Yazici, C., Anderson, K. E., Bissell, D. M., Bloomer, J. R., Phillips, J. D., Naik, H., Peter, I., Baillargeon, G., Bossi, K., Gandolfo, L., Light, C., Bishop, D. & Desnick, R. J., Dec 1 2014, In: American Journal of Medicine. 127, 12, p. 1233-1241 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Acute Intermittent Porphyria
  • Porphyrias
  • Hereditary Coproporphyria
  • Hemin
  • Genetic Testing
  95 Scopus citations

• Clinical, biochemical, and genetic characterization of north American patients with erythropoietic protoporphyria and x-linked protoporphyria

  Balwani, M., Naik, H., Anderson, K. E., Bissell, D. M., Bloomer, J., Bonkovsky, H. L., Phillips, J. D., Overbey, J. R., Wang, B., Singal, A. K., Liu, L. U. & Desnick, R. J., Aug 2017, In: JAMA Dermatology. 153, 8, p. 789-796 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Erythropoietic Protoporphyria
  • Molecular Biology
  • Liver Diseases
  • Phototoxic Dermatitis
  • Genetic Databases
  31 Scopus citations

• CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda

  Wickliffe, J. K., Abdel-Rahman, S. Z., Lee, C., Kormos-Hallberg, C., Sood, G., Rondelli, C. M., Grady, J. J., Desnick, R. J. & Anderson, K. E., Mar 2011, In: Molecular Medicine. 17, 3-4, p. 241-247 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Porphyria Cutanea Tarda
  • Cytochrome P-450 CYP1A2
  • Alleles
  • Uroporphyrinogen Decarboxylase
  • Cytochrome P-450 CYP1A1
  13 Scopus citations

• Cystathionine-γ-lyase (CSE) deficiency increases erythropoiesis and promotes mitochondrial electron transport via the upregulation of coproporphyrinogen III oxidase and consequent stimulation of heme biosynthesis

  Módis, K., Ramanujam, V. M. S., Govar, A. A., Lopez, E., Anderson, K. E., Wang, R. & Szabo, C., Nov 2019, In: Biochemical Pharmacology. 169, 113604.

  Research output: Contribution to journal › Article › peer-review

  • Coproporphyrinogen Oxidase
  • Electron Transport
  • Biosynthesis
  • Cystathionine
  • Lyases
  1 Scopus citations

• Daidzein and genistein have differential effects in decreasing whole body bone mineral density but had no effect on hip and spine density in premenopausal women: A 2-year randomized, double-blind, placebo-controlled study

  Nayeem, F., Chen, N. W., Nagamani, M., Anderson, K. E. & Lu, L. J. W., Aug 2019, In: Nutrition Research. 68, p. 70-81 12 p.

  Research output: Contribution to journal › Article › peer-review

  • daidzein
  • Genistein
  • varespladib methyl
  • Isoflavones
  • Bone Density
  4 Scopus citations

• Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure

  Attarian, S., Yu, C., Anderson, K. E. & Friedman, E. W., Jun 13 2017, In: Blood Advances. 1, 14, p. 915-917 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  3 Scopus citations

• Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria

  Naik, H., Overbey, J. R., Desnick, R. J., Anderson, K. E., Bissell, D. M., Bloomer, J., Bonkovsky, H. L., Phillips, J. D., Wang, B., Singal, A. & Balwani, M., Nov 2019, In: JIMD Reports. 50, 1, p. 9-19 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Erythropoietic Protoporphyria
  • Information systems
  • Patient Reported Outcome Measures
  • Information Systems
  • Quality of Life
  2 Scopus citations

• Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria

  Naik, H., Overbey, J. R., Montgomery, G. H., Winkel, G., Balwani, M., Anderson, K. E., Bissell, D. M., Bonkovsky, H. L., Phillips, J. D., Wang, B., McGuire, B., Keel, S., Levy, C., Erwin, A. & Desnick, R. J., Mar 1 2020, In: Genetics in Medicine. 22, 3, p. 590-597 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Acute Intermittent Porphyria
  • Patient Reported Outcome Measures
  • Information Systems
  • Fatigue
  • Pain
  2 Scopus citations

• EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

  Gouya, L., Ventura, P., Balwani, M., Bissell, D. M., Rees, D. C., Stölzel, U., Phillips, J. D., Kauppinen, R., Langendonk, J. G., Desnick, R. J., Deybach, J. C., Bonkovsky, H. L., Parker, C., Naik, H., Badminton, M., Stein, P. E., Minder, E., Windyga, J., Bruha, R., Cappellini, M. D. & 16 others, Sardh, E., Harper, P., Sandberg, S., Aarsand, A. K., Andersen, J., Alegre, F., Ivanova, A., Talbi, N., Chan, A., Querbes, W., Ko, J., Penz, C., Liu, S., Lin, T., Simon, A. & Anderson, K. E., May 1 2020, In: Hepatology. 71, 5, p. 1546-1558 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Acute Hepatic Porphyria
  • Natural History
  • Hemin
  • Aminolevulinic Acid
  • Health Facilities
  20 Scopus citations

• Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

  Moghe, A., Ramanujam, V. M. S., Phillips, J. D., Desnick, R. J. & Anderson, K. E., Jun 2019, In: Molecular Genetics and Metabolism Reports. 19, 100457.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Harderoporphyria
  • Coproporphyrinogen Oxidase
  • Porphyrins
  • harderoporphyrin
  • Feces

• Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda

  Singal, A. K., Venkata, K. V. R., Jampana, S., Islam, F. U. & Anderson, K. E., Jun 1 2017, In: American Journal of the Medical Sciences. 353, 6, p. 523-528 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Porphyria Cutanea Tarda
  • Hepatitis C
  • Hepacivirus
  • Interferons
  • Antiviral Agents
  13 Scopus citations

• International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

  Chen, B., Whatley, S., Badminton, M., Aarsand, A. K., Anderson, K. E., Bissell, D. M., Bonkovsky, H. L., Cappellini, M. D., Floderus, Y., Friesema, E. C. H., Gouya, L., Harper, P., Kauppinen, R., Loskove, Y., Martásek, P., Phillips, J. D., Puy, H., Sandberg, S., Schmitt, C., To-Figueras, J. & 4 others, Weiss, Y., Yasuda, M., Deybach, J. C. & Desnick, R. J., Nov 1 2019, In: Genetics in Medicine. 21, 11, p. 2605-2613 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Porphyrias
  • Acute Hepatic Porphyria
  • Molecular Pathology
  • Databases
  • National Center for Advancing Translational Sciences (U.S.)
  5 Scopus citations

• 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

  Balwani, M., Doheny, D., Bishop, D. F., Nazarenko, I., Yasuda, M., Dailey, H. A., Anderson, K. E., Montgomery Bissell, D., Bloomer, J., Bonkovsky, H. L., Phillips, J. D., Liu, L. & Desnick, R. J., Jan 23 2013, In: Molecular Medicine. 19, 1, p. 26-35 10 p.

  Research output: Contribution to journal › Article › peer-review

  • 5-Aminolevulinate Synthetase
  • Ferrochelatase
  • Erythropoietic Protoporphyria
  • Loss of Function Mutation
  • Mutation
  51 Scopus citations

• Low-Dose Hydroxychloroquine Is as Effective as Phlebotomy in Treatment of Patients With Porphyria Cutanea Tarda

  Singal, A. K., Kormos-Hallberg, C., Lee, C., Sadagoparamanujam, V. M., Grady, J. J., Freeman, D. H. & Anderson, K. E., Dec 2012, In: Clinical Gastroenterology and Hepatology. 10, 12, p. 1402-1409 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Porphyria Cutanea Tarda
  • Hydroxychloroquine
  • Phlebotomy
  • Porphyrins
  • Compliance
  49 Scopus citations

• Phase 1 trial of an RNA interference therapy for acute intermittent porphyria

  Sardh, E., Harper, P., Balwani, M., Stein, P., Rees, D., Montgomery Bissell, D., Desnick, R., Parker, C., Phillips, J., Bonkovsky, H. L., Vassiliou, D., Penz, C., Chan-Daniels, A., He, Q., Querbes, W., Fitzgerald, K., Kim, J. B., Garg, P., Vaishnaw, A., Simon, A. R. & 1 others, Anderson, K. E., Feb 7 2019, In: New England Journal of Medicine. 380, 6, p. 549-558 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Acute Intermittent Porphyria
  • RNA Interference
  • Aminolevulinic Acid
  • Injections
  • Placebos
  66 Scopus citations

• Phase 3 trial of RNAi therapeutic givosiran for acute intermittent porphyria

  Balwani, M., Sardh, E., Ventura, P., Peiró, P. A., Rees, D. C., Stölzel, U., Bissell, D. M., Bonkovsky, H. L., Windyga, J., Anderson, K. E., Parker, C., Silver, S. M., Keel, S. B., Wang, J. D., Stein, P. E., Harper, P., Vassiliou, D., Wang, B., Phillips, J., Ivanova, A. & 14 others, Langendonk, J. G., Kauppinen, R., Minder, E., Horie, Y., Penz, C., Chen, J., Liu, S., Ko, J. J., Sweetser, M. T., Garg, P., Vaishnaw, A., Kim, J. B., Simon, A. R. & Gouya, L., Jun 11 2020, In: New England Journal of Medicine. 382, 24, p. 2289-2301 13 p.

  Research output: Contribution to journal › Article › peer-review

  • RNAi Therapeutics
  • Acute Intermittent Porphyria
  • Acute Hepatic Porphyria
  • Aminolevulinic Acid
  • Porphobilinogen
  28 Scopus citations

• Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations

  Weiss, Y., Chen, B., Yasuda, M., Nazarenko, I., Anderson, K. E. & Desnick, R. J., Nov 2019, In: Molecular Genetics and Metabolism. 128, 3, p. 363-366 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Hepatoerythropoietic Porphyria
  • Uroporphyrinogen Decarboxylase
  • Porphyria Cutanea Tarda
  • Mutation
  • Skin Manifestations
  1 Scopus citations

• Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria

  Parker, C. J., Desnick, R. J., Bissel, M. D., Bloomer, J. R., Singal, A., Gouya, L., Puy, H., Anderson, K. E., Balwani, M. & Phillips, J. D., Nov 2019, In: Molecular Genetics and Metabolism. 128, 3, p. 309-313 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Erythropoietic Protoporphyria
  • protoporphyrin IX
  • Isoniazid
  • Aminolevulinic Acid
  • Porphyrias
  2 Scopus citations

• Riboflavin as an independent and accurate biomarker for adherence in a randomized double-blind and placebo-controlled clinical trial

  Ramanujam, V. M. S., Nayeem, F., Anderson, K. E., Kuo, Y. F., Chen, N. W., Ju, H. & Lu, L. J. W., Aug 18 2017, In: Biomarkers. 22, 6, p. 508-516 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Biomarkers
  • Riboflavin
  • Controlled Clinical Trials
  • Placebos
  • daidzein
  2 Scopus citations

• Riboflavin as an oral tracer for monitoring compliance in clinical research

  Sadagopa Ramanujam, V. M., Anderson, K. E., Grady, J. J., Nayeem, F. & Lu, L. J. W., 2011, In: Open Biomarkers Journal. 4, 1, p. 1-7 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Clinical research
  • Riboflavin
  • Compliance
  • Monitoring
  • Isoflavones
  14 Scopus citations

• Similarity of Fibroglandular Breast Tissue Content Measured from Magnetic Resonance and Mammographic Images and by a Mathematical Algorithm

  Nayeem, F., Ju, H., Brunder, D. G., Nagamani, M., Anderson, K. E., Khamapirad, T. & Lu, L. J. W., 2014, In: International Journal of Breast Cancer. 2014, 961679.

  Research output: Contribution to journal › Article › peer-review

  • Breast Density
  • Magnetic Resonance Spectroscopy
  • Breast
  • Magnetic Resonance Imaging
  • Adipose Tissue
  6 Scopus citations

• Soy isoflavones interact with calcium and contribute to blood pressure homeostasis in women: a randomized, double-blind, placebo controlled trial

  Lu, L. J. W., Chen, N. W., Nayeem, F., Nagamani, M. & Anderson, K. E., Sep 1 2020, In: European Journal of Nutrition. 59, 6, p. 2369-2381 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Isoflavones
  • Homeostasis
  • Placebos
  • Calcium
  • Blood Pressure

• Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria

  Phillips, J., Farrell, C., Wang, Y., Singal, A. K., Anderson, K., Balwani, M., Bissell, M., Bonkovsky, H., Seay, T., Paw, B., Desnick, R. & Bloomer, J., Nov 2019, In: Molecular Genetics and Metabolism. 128, 3, p. 391-395 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Ferrochelatase
  • protoporphyrin IX
  • Messenger RNA
  • Cells
  • Iron Regulatory Protein 2
  2 Scopus citations

• The CTSA as an Exemplar Framework for Developing Multidisciplinary Translational Teams

  Calhoun, W. J., Wooten, K., Bhavnani, S., Anderson, K. E., Freeman, J. & Brasier, A. R., Feb 2013, In: Clinical and translational science. 6, 1, p. 60-71 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Education
  • Industry
  • Data Analysis
  • Technology
  • Therapeutics
  20 Scopus citations

• The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria

  Wang, P., Sachar, M., Lu, J., Shehu, A. I., Zhu, J., Chen, J., Liu, K., Anderson, K. E., Xie, W., Gonzalez, F. J., Klaassen, C. D. & Ma, X., Sep 18 2019, In: Science Advances. 5, 9, eaaw6127.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • transporter
  • biosynthesis
  • excretion
  • efflux
  • metabolism
  3 Scopus citations
• Chapter

  Approaches to Treatment and Prevention of Human Porphyrias

  Anderson, K., Dec 2 2012, The Porphyrin Handbook: Medical Aspects of Porphyrins. Elsevier Inc., Vol. 14. p. 247-284 38 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  4 Scopus citations

• Disorders of haem biosynthesis

  Marquez Louren Ç O, C., Lee, C. & Anderson, K. E., Jan 1 2012, Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, p. 519-532 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Acute Intermittent Porphyria
  • Porphyrias
  • Heme
  • X-linked sideroblastic anemia
  • Carbohydrate Loading Diet
  3 Scopus citations

• Heme biosynthesis and the porphyrias

  Desnick, R. J., Balwani, M. & Anderson, K. E., Jan 1 2011, Liver Disease in Children, Fourth Edition. Cambridge University Press, p. 509-525 17 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Porphyrias
  • Porphyrins
  • Heme
  • Hepatic Porphyria
  • Puberty

• Inherited Porphyrias

  Desnick, R. J., Balwani, M. & Anderson, K. E., 2013, Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier Ltd, p. 1-32 32 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
  3 Scopus citations

• Porphyrias: Acute manifestations

  Anderson, K., Jan 1 2014, Endocrine Emergencies: Recognition and Treatment. Humana Press Inc., p. 241-261 21 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• The porphyrias

  Gou, E. & Anderson, K., Jan 1 2013, Handbook of Photomedicine. CRC Press, p. 123-132 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• The porphyrias

  Gou, E., Phillips, J. D. & Anderson, K., Jan 6 2017, Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. IOS Press, p. 543-576 34 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Intrahepatic Cholestasis
  • Porphyrias
  • Familial Hypercholanemia
  • North American Indian Childhood Cirrhosis
  • Hereditary Hyperbilirubinemia
  1 Scopus citations

• The Porphyrias

  Anderson, K. E., Jul 1 2011, Goldman's Cecil Medicine: Twenty Fourth Edition. Elsevier Inc., Vol. 2. p. 1363-1371 9 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter
• Comment/debate

  Commentary

  Anderson, K. E., Jun 2019, In: Clinical chemistry. 65, 6, p. 737 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access
• Letter

  The authors reply

  Bissell, D. M., Anderson, K. & Bonkovsky, H. L., Nov 23 2017, In: New England Journal of Medicine. 377, 21, 1 p.

  Research output: Contribution to journal › Letter › peer-review
  4 Scopus citations
• Review article

  Acute hepatic porphyrias: Recommendations for evaluation and long-term management

  for the Porphyrias Consortium of the Rare Diseases Clinical Research Network, Oct 2017, In: Hepatology. 66, 4, p. 1314-1322 9 p.

  Research output: Contribution to journal › Review article › peer-review

  • Acute Hepatic Porphyria
  • Porphyrins
  • Physiologic Monitoring
  • Guidelines
  • Porphyrias
  35 Scopus citations

• Acute hepatic porphyrias: Current diagnosis & management

  Anderson, K. E., Nov 2019, In: Molecular Genetics and Metabolism. 128, 3, p. 219-227 9 p.

  Research output: Contribution to journal › Review article › peer-review

  • Acute Hepatic Porphyria
  • Porphobilinogen
  • Hemin
  • Carbohydrate Loading Diet
  • Testing
  9 Scopus citations

• Current and innovative emerging therapies for porphyrias with hepatic involvement

  Fontanellas, A., Ávila, M. A., Anderson, K. E. & Deybach, J. C., Aug 2019, In: Journal of hepatology. 71, 2, p. 422-433 12 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Hepatic Porphyria
  • Porphyrias
  • Porphyrins
  • Investigational Therapies
  • Sunlight
  4 Scopus citations

• Porphyria

  Bissell, D. M., Anderson, K. E. & Bonkovsky, H. L., Aug 31 2017, In: New England Journal of Medicine. 377, 9, p. 862-872 11 p.

  Research output: Contribution to journal › Review article › peer-review
  98 Scopus citations