The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
Porphyria
Abstract
Each of the eight enzymes involved in porphyrin synthesis can be defective and can produce a distinctive form of porphyria. The diagnosis of porphyria can be obscure and the symptoms severe. New treatments are emerging to manage the wide constellation of symptoms.
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Cites
Revised Recommendations on Screening for Chloroquine and Hydroxychloroquine Retinopathy
Marmor, M. F., Kellner, U., Lai, T. Y. Y., Lyons, J. S., & Mieler, W. F. (2011) · Ophthalmology · doi:10.1016/j.ophtha.2010.11.017 · Cited by 710
Recommendations for the Diagnosis and Treatment of the Acute Porphyrias
Anderson, K. E., Bloomer, J. R., Bonkovsky, H. L., Kushner, J. P., Pierach, C. A., Pimstone, N. R., & Desnick, R. J. (2005) · Annals of Internal Medicine · doi:10.7326/0003-4819-142-6-200503150-00010 · Cited by 628
Self-citationWhatley, S. D., Ducamp, S., Gouya, L., Grandchamp, B., Beaumont, C., Badminton, M. N., Elder, G. H., Holme, S. A., Anstey, A. V., Parker, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.003 · Cited by 293
The incidence of inherited porphyrias in Europe
Elder, G., Harper, P., Badminton, M., Sandberg, S., & Deybach, J. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9544-4 · Cited by 292
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., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1411481 · Cited by 283
Self-citationPorphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†
Bonkovsky, H. L., Poh-Fitzpatrick, M., Pimstone, N., Obando, J., Di Bisceglie, A., Tattrie, C., Tortorelli, K., LeClair, P., Mercurio, M. G., & Lambrecht, R. W. (1998) · Hepatology · doi:10.1002/hep.510270627 · Cited by 270
Self-citationZinc Protoporphyrin: A Metabolite with a Mission
Labbé, R. F., Vreman, H. J., & Stevenson, D. K. (1999) · Clinical Chemistry · doi:10.1093/clinchem/45.12.2060 · Cited by 270
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., et al. (2014) · The American Journal of Medicine · doi:10.1016/j.amjmed.2014.06.036 · Cited by 264
Self-citationAcute Porphyrias: Pathogenesis of Neurological Manifestations
Meyer, U., Schuurmans, M., & Lindberg, R. (1998) · Seminars in Liver Disease · doi:10.1055/s-2007-1007139 · Cited by 231
δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptors
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Cited by
RNAi-Based Therapeutics and Novel RNA Bioengineering Technologies
Traber, G. M., & Yu, A.-M. (2023) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.122.001234 · Cited by 291
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria
Jiang, L., Berraondo, P., Jericó, D., Guey, L. T., Sampedro, A., Frassetto, A., Benenato, K. E., Burke, K., Santamaría, E., Alegre, M., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0199-z · Cited by 181
Clinical guide and update on porphyrias
Stölzel, U., Doss, M. O., & Schuppan, D. (2019) · Gastroenterology · doi:10.1053/j.gastro.2019.04.050 · Cited by 175
de Paula Brandão, P. R., Titze-de-Almeida, S. S., & Titze-de-Almeida, R. (2020) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00438-6 · Cited by 72
Therapeutic RNA-silencing oligonucleotides in metabolic diseases
Goga, A., & Stoffel, M. (2022) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00407-5 · Cited by 58
Metadata
- Authors
- Bissell, D. M., Anderson, K. E., & Bonkovsky, H. L.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2017-08-31
- Volume
- 377
- Issue
- 9
- Pages
- 862-872
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W4253599714
- Cited by
- 399
- References
- 49
- FWCI
- 10.77
- Type
- journal article
- Language
- en
- Open access
- closed
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- Bissell, D. M., Anderson, K. E., & Bonkovsky, H. L. (2017). Porphyria. New England Journal of Medicine. https://doi.org/10.1056/nejmra1608634
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
