Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis. As a result, neurotoxic porphyrin precursors and light-sensitive porphyrins accumulate, while dysfunction in their targe...

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Detalles Bibliográficos
Autores principales: Collaud, Edwige, Wittwer, Luis, Minder, Anna-Elisabeth, Annoni, Jean-Marie, Minder, Elisabeth I., Chabwine, Joelle N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9662787/
https://www.ncbi.nlm.nih.gov/pubmed/36386813
http://dx.doi.org/10.3389/fgene.2022.993453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9662787/
https://www.ncbi.nlm.nih.gov/pubmed/36386813
http://dx.doi.org/10.3389/fgene.2022.993453

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