Many pitfalls in diagnosis of acute intermittent porphyria: a case report

BACKGROUND: Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms. CASE PRESENTATION: We report a case of 33-year-old...

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Bibliografski detalji
Izdano u:BMC Res Notes
Glavni autori: Indika, N. L. R., Kesavan, T., Dilanthi, H. W., Jayasena, K. L. S. P. K. M., Chandrasiri, N. D. P. D., Jayasinghe, I. N., Piumika, U. M. T., Vidanapathirana, D. M., Gunarathne, K. D. A. V., Dissanayake, M., Jasinge, E., Arachchi, W. Kodikara, Doheny, D., Desnick, R. J.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6071335/
https://ncbi.nlm.nih.gov/pubmed/30071891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-018-3615-z
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