Literature DB >> 23414711

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

Monica Del Rizzo1, Alessandro P Burlina, Jörn Oliver Sass, Frauke Beermann, Chiara Zanco, Chiara Cazzorla, Andrea Bordugo, Laura Giordano, Renzo Manara, Alberto B Burlina.   

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.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID： 23414711     DOI： 10.1016/j.ymgme.2013.01.011

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  6 in total

Review 1.  Isolated sulfite oxidase deficiency.

Authors:  Helena Claerhout; Peter Witters; Luc Régal; Katrien Jansen; Marie-Rose Van Hoestenberghe; Jeroen Breckpot; Pieter Vermeersch
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

2.  Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Authors:  Albert L Misko; Ye Liang; Joshua B Kohl; Florian Eichler
Journal:  Neurol Genet       Date:  2020-07-14

Review 3.  Homeostatic impact of sulfite and hydrogen sulfide on cysteine catabolism.

Authors:  Joshua B Kohl; Anna-Theresa Mellis; Guenter Schwarz
Journal:  Br J Pharmacol       Date:  2018-09-27       Impact factor: 8.739

4.  Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.

Authors:  Jiangang Zhao; Yao An; Haoxiang Jiang; Haibin Wu; Fengyu Che; Ying Yang
Journal:  Front Genet       Date:  2021-05-07       Impact factor: 4.599

5.  Molybdenum cofactor transfer from bacteria to nematode mediates sulfite detoxification.

Authors:  Kurt Warnhoff; Gary Ruvkun
Journal:  Nat Chem Biol       Date:  2019-03-25       Impact factor: 15.040

Review 6.  Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.

Authors:  Maoqiang Tian; Yi Qu; Lingyi Huang; Xiaojuan Su; Shiping Li; Junjie Ying; Fengyan Zhao; Dezhi Mu
Journal:  BMC Pediatr       Date:  2019-12-23       Impact factor: 2.125
  6 in total

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