Find Research outputs

Search results

• 2020

  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

• 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

• 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
• 2019

  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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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 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
• 2018

  Novel effects of phytoestrogenic soy isoflavones on serum calcium and chloride in premenopausal women: A 2-year double-blind, randomized, placebo-controlled study

  Lu, L. J. W., Chen, N. W., Nayeem, F., Ramanujam, V. M. S., Kuo, Y. F., Brunder, D. G., Nagamani, M. & Anderson, K. E., Dec 2018, In: Clinical Nutrition. 37, 6, p. 1862-1870 9 p.

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

  • Calcium Chloride
  • Isoflavones
  • varespladib methyl
  • Placebos
  • Genistein
  2 Scopus citations

• Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis

  Salameh, H., Sarairah, H., Rizwan, M., Kuo, Y. F., Anderson, K. E. & Singal, A. K., Dec 2018, In: British Journal of Dermatology. 179, 6, p. 1351-1357 7 p.

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

  • 4-aminoquinoline
  • Porphyria Cutanea Tarda
  • Phlebotomy
  • Antimalarials
  • Meta-Analysis
  5 Scopus citations

• Reply

  for the Porphyrias Consortium of the Rare Diseases Clinical Research Network, Feb 1 2018, In: Hepatology. 67, 2, p. 803-804 2 p.

  Research output: Contribution to journal › Letter › peer-review
• 2017

  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

• 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

• 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

• 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

• 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

• 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

• 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

• 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
• 2016

  Porphyria cutanea tarda in a child with acute lymphoblastic leukemia

  Thawani, R., Moghe, A., Idhate, T., Kalra, M., Mahajan, A. & Anderson, K. E., Mar 1 2016, In: QJM. 109, 3, p. 191-192 2 p.

  Research output: Contribution to journal › Article › peer-review
  3 Scopus citations

• Protoporphyrin IX: The good, the bad, and the ugly

  Sachar, M., Anderson, K. E. & Ma, X., Feb 1 2016, In: Journal of Pharmacology and Experimental Therapeutics. 356, 2, p. 267-275 9 p.

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

  • protoporphyrin IX
  • Heme
  • Ferrochelatase
  • Liver
  • Porphyrias
  63 Scopus citations
• 2015

  Afamelanotide for erythropoietic protoporphyria

  Langendonk, J. G., Balwani, M., Anderson, K. E., Bonkovsky, H. L., Anstey, A. V., Bissell, D. M., Bloomer, J., Edwards, C., Neumann, N. J., Parker, C., Phillips, J. D., Lim, H. W., Hamzavi, I., Deybach, J. C., Kauppinen, R., Rhodes, L. E., Frank, J., Murphy, G. M., Karstens, F. P. J., Sijbrands, E. J. G. & 6 others, De Rooij, F. W. M., Lebwohl, M., Naik, H., Goding, C. R., Wilson, J. H. P. & Desnick, R. J., Jul 2 2015, In: New England Journal of Medicine. 373, 1, p. 48-59 12 p.

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

  • afamelanotide
  • Erythropoietic Protoporphyria
  • European Union
  • Quality of Life
  • Placebos
  92 Scopus citations

• Liver transplantation for acute intermittent porphyria: Biochemical and pathologic studies of the explanted liver

  Yasuda, M., Erwin, A. L., Liu, L. U., Balwani, M., Chen, B., Kadirvel, S., Gan, L., Fie, M. I., Gordon, R. E., Yu, C., Clavero, S., Arvelakis, A., Naik, H., Martin, L. D., Phillips, J. D., Anderson, K. E., Sadagoparamanujam, V. M., Florman, S. S. & Desnick, R. J., Jun 5 2015, In: Molecular Medicine. 21, p. 487-495 9 p.

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

  • Acute Intermittent Porphyria
  • Aminolevulinic Acid
  • Liver Transplantation
  • Porphobilinogen
  • Liver
  27 Scopus citations

• Mentoring in Clinical-Translational Research: A Study of Participants in Master's Degree Programs

  McGinn, A. P., Lee, L. S., Baez, A., Zwanziger, J., Anderson, K. E., Seely, E. W. & Schoenbaum, E., Dec 1 2015, In: Clinical and translational science. 8, 6, p. 746-753 8 p.

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

  • Clinical research
  • Mentoring
  • Translational Medical Research
  • Mentors
  • Research Personnel
  2 Scopus citations

• Pitfalls in erythrocyte protoporphyrin measurement for diagnosis and monitoring of protoporphyrias

  Gou, E. W., Balwani, M., Bissell, D. M., Bloomer, J. R., Bonkovsky, H. L., Desnick, R. J., Naik, H., Phillips, J. D., Singal, A. K., Wang, B., Keel, S. & Anderson, K. E., Dec 2015, In: Clinical chemistry. 61, 12, p. 1453-1456 4 p.

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

  • protoporphyrin IX
  • Erythrocytes
  • zinc protoporphyrin
  • Erythropoietic Protoporphyria
  • Monitoring
  19 Scopus citations

• Porphyria diagnostics-part 1: A brief overview of the porphyrias

  Ramanujam, V. M. S. & Anderson, K. E., 2015, In: Current Protocols in Human Genetics. 2015, p. 17.20.1-17.20.26

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

  • Porphyrias
  • Erythropoietic Porphyria
  • Heme
  • Erythropoietic Protoporphyria
  • Acute Intermittent Porphyria
  31 Scopus citations

• The Multidisciplinary Translational Team (MTT) Model for Training and Development of Translational Research Investigators

  Ameredes, B. T., Hellmich, M. R., Cestone, C. M., Wooten, K. C., Ottenbacher, K. J., Chonmaitree, T., Anderson, K. E. & Brasier, A. R., Oct 2015, In: Clinical and translational science. 8, 5, p. 533-541 9 p.

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

  • Translational Medical Research
  • Research Personnel
  • Interdisciplinary Research
  • Mentoring
  • Health
  12 Scopus citations
• 2013

  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

• 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

• 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 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
• 2011

  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

• 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

• 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

• 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