Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.

Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.

<h4>Objective</h4>Isolated sulfite oxidase deficiency (ISOD; OMIM #272300) is a devastating rare neurometabolic disorder due to biallelic pathogenic variants in the SUOX gene, that typically results in neonatal refractory epilepsy and progressive severe encephalopathy. Knowledge on the q...

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Bibliographic Details
Main Authors: Laura Göde, Matthias Zielonka, Sven F Garbade, Roland Posset
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0323043
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