Literature DB >> 24938149

Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.

Li-Wen Chen1, Yi-Shan Tsai2, Chao-Ching Huang3.   

Abstract

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Year:  2014        PMID： 24938149     DOI： 10.1016/j.pediatrneurol.2014.03.010

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  7 in total

Review 1.  The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models.

Authors:  Angela T S Wyse; Mateus Grings; Moacir Wajner; Guilhian Leipnitz
Journal:  Neurotox Res       Date:  2018-12-05       Impact factor: 3.911

Review 2.  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

3.  Evidence that Thiosulfate Inhibits Creatine Kinase Activity in Rat Striatum via Thiol Group Oxidation.

Authors:  Mateus Grings; Belisa Parmeggiani; Alana Pimentel Moura; Leonardo de Moura Alvorcem; Angela T S Wyse; Moacir Wajner; Guilhian Leipnitz
Journal:  Neurotox Res       Date:  2018-07-28       Impact factor: 3.911

4.  Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Authors:  Maha S Zaki; Laila Selim; Hala T El-Bassyouni; Mahmoud Y Issa; Iman Mahmoud; Samira Ismail; Mariane Girgis; Abdelrahim A Sadek; Joseph G Gleeson; Mohamed S Abdel Hamid
Journal:  Eur J Paediatr Neurol       Date:  2016-05-30       Impact factor: 3.140

5.  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

6.  Prenatal brain disruption in isolated sulfite oxidase deficiency.

Authors:  Hsiu-Fen Lee; Ching-Shiang Chi; Chi-Ren Tsai; Hung-Chieh Chen; I-Chun Lee
Journal:  Orphanet J Rare Dis       Date:  2017-06-19       Impact factor: 4.123

7.  The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats.

Authors:  Nícolas Manzke Glänzel; Mateus Grings; Nevton Teixeira da Rosa-Junior; Leila Maria Cereta de Carvalho; Al-Walid Mohsen; Peter Wipf; Moacir Wajner; Jerry Vockley; Guilhian Leipnitz
Journal:  J Inherit Metab Dis       Date:  2020-09-14       Impact factor: 4.982
  7 in total

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