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Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency


Del Rizzo, Monica; Burlina, Alessandro P; Sass, Jörn Oliver; Beermann, Frauke; Zanco, Chiara; Cazzorla, Chiara; Bordugo, Andrea; Giordano, Laura; Manara, Renzo; Burlina, Alberto B (2013). Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. Molecular Genetics and Metabolism, 108(4):263-266.

Abstract

We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.

Abstract

We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2013
Deposited On:06 Aug 2013 06:48
Last Modified:05 Apr 2016 16:53
Publisher:Elsevier
ISSN:1096-7192
Publisher DOI:https://doi.org/10.1016/j.ymgme.2013.01.011
PubMed ID:23414711

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