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  • Karl Anderson
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 journalReview article

4 Scopus citations
2018

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 journalLetter

2019

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., 2019, In : JIMD Reports. 50, 1, p. 9-19 11 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2018
1 Scopus citations
2015

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 journalArticle

12 Scopus citations
2019

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 journalArticle

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 journalArticle

2 Scopus citations
2 Scopus citations
2013

Inherited Porphyrias

Desnick, R. J., Balwani, M. & Anderson, K. E., Aug 29 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 proceedingChapter

3 Scopus citations
2017

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 proceedingChapter

1 Scopus citations
2011

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 journalArticle

12 Scopus citations
2015

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 journalArticle

2 Scopus citations
2011

Heme biosynthesis and the porphyrias

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

Research output: Chapter in Book/Report/Conference proceedingChapter

2019

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 journalArticle

44 Scopus citations
2015

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 journalArticle

23 Scopus citations
2012

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 proceedingChapter

4 Scopus citations
2019
Open Access
2013

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 journalArticle

50 Scopus citations
2018

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. & Singal, A. K., Dec 1 2018, In : British Journal of Dermatology. 179, 6, p. 1351-1357 7 p.

Research output: Contribution to journalReview article

5 Scopus citations
2019

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., 2019, (Accepted/In press) In : Hepatology.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations
2012

Disorders of haem biosynthesis

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

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations
2019

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 journalArticle

Open Access
2015

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 journalArticle

18 Scopus citations
2019

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 journalArticle

2 Scopus citations
1 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 journalArticle

Current and innovative emerging therapies for porphyrias with hepatic involvement

Fontanellas, A., Ávila, M. A., Anderson, K. & Deybach, J. C., Jan 1 2019, In : Journal of hepatology.

Research output: Contribution to journalReview article

Open Access
2 Scopus citations
2017

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

for the Porphyrias Consortium of the Rare Diseases Clinical Research Network, Oct 1 2017, In : Hepatology. 66, 4, p. 1314-1322 9 p.

Research output: Contribution to journalReview article

25 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., Mar 1 2016, In : QJM. 109, 3, p. 191-192 2 p.

Research output: Contribution to journalArticle

3 Scopus citations
2017

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 journalArticle

12 Scopus citations

Porphyria

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

Research output: Contribution to journalReview article

76 Scopus citations
2012

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 1 2012, In : Clinical Gastroenterology and Hepatology. 10, 12, p. 1402-1409 8 p.

Research output: Contribution to journalArticle

47 Scopus citations
2017

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 journalLetter

4 Scopus citations
2016

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 journalArticle

54 Scopus citations
2014

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 journalArticle

5 Scopus citations
2015

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 journalArticle

19 Scopus citations
2019

Commentary

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

Research output: Contribution to journalComment/debate

Open Access
2014

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 journalArticle

79 Scopus citations
2017

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 journalArticle

2 Scopus citations
2013

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 proceedingChapter

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 journalArticle

13 Scopus citations
2014

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 proceedingChapter

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 journalArticle

87 Scopus citations
2017

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 journalArticle

27 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 journalArticle

Open Access
3 Scopus citations
2011

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 proceedingChapter

2013

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 journalArticle

19 Scopus citations