Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study - University of Regensburg Publication Server

URN to cite this document:: urn:nbn:de:bvb:355-epub-774387
DOI to cite this document:: 10.5283/epub.77438

Roesch, Sebastian ; O'Sullivan, Anna ; Tschani, Stefan ; Baghdasaryan, Anna ; Balasubramaniam, Shanti ; Barić, Ivo ; de Boer, Lonneke ; Grünert, Sarah C. ; Guzek, Anna ; Janssen, Mirian ; Krumina, Zita ; Koenig, Mary Kay ; Lewkowitz, Ashleigh M. ; Mochel, Fanny ; Naldi, Arianne Monge ; Plecko, Barbara ; Öztürk, Kerem ; O'Grady, Lauren ; Riordan, Gillian ; Rymen, Daisy ; Sahai, Inderneel ; Santer, René ; Schiff, Manuel ; Stettner, Georg M. ; Tsiakas, Konstantinos ; Uçar, Sema Kalkan ; Uzun, Özlem Ünal ; Weigel, Corina ; Witters, Peter ; Merkevicius, Kajus ; Mayr, Johannes A. ; Wortmann, Saskia B. ; Iwanicka-Pronicka, Katarzyna

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Date of publication of this fulltext: 31 Jul 2025 06:51

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Abstract

Objective 3-methylglutaconic aciduria (MEG), dystonia-deafness (D), (hepatopathy (H)), encephalopathy (E), and Leigh-like-syndrome (L) (MEGD(H)EL) syndrome is a rare, severely disabling progressive mitochondrial disease associated with biallelic pathogenic variants in SERAC1. Knowledge about hearing loss (HL) and hearing rehabilitation is scarce but highly sought after for best possible care in ...

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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

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