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Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis
BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon. CASE REPORT: We present a case of a 26-year-old female with suspected acute cholecystitis, mental...
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| Publicado no: | Neuropsychiatr Dis Treat |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4235503/ https://ncbi.nlm.nih.gov/pubmed/25419136 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/NDT.S73070 |
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