• 5857 Citations
  • 44 h-Index
1968 …2023
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Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Porphyrias Medicine & Life Sciences
Acute Intermittent Porphyria Medicine & Life Sciences
Porphyria Cutanea Tarda Medicine & Life Sciences
Heme Medicine & Life Sciences
Diet Medicine & Life Sciences
Liver Medicine & Life Sciences
Porphyrins Medicine & Life Sciences
Antipyrine Medicine & Life Sciences

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Research Output 1968 2019


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

Research output: Contribution to journalComment/debate

Open Access
Open Access
Coproporphyrinogen Oxidase
Neonatal Anemia

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., 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 othersWeiss, Y., Yasuda, M., Deybach, J. C. & Desnick, R. J., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Molecular Pathology
Coproporphyrinogen Oxidase
3 Citations (Scopus)

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 othersAnderson, K., Feb 7 2019, In : New England Journal of Medicine. 380, 6, p. 549-558 10 p.

Research output: Contribution to journalArticle

Acute Intermittent Porphyria
RNA Interference
Aminolevulinic Acid

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

Weiss, Y., Chen, B., Yasuda, M., Nazarenko, I., Anderson, K. & Desnick, R. J., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Hepatoerythropoietic Porphyria
Uroporphyrinogen Decarboxylase
Porphyria Cutanea Tarda
Skin Manifestations