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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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Saleh, Neam, Alenazi, Helal, Baffoe-Bonnie, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235503/
https://www.ncbi.nlm.nih.gov/pubmed/25419136
http://dx.doi.org/10.2147/NDT.S73070

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