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...
Main Authors: | Edwige Collaud, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-10-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.993453/full |
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