A compound heterozygote case of isolated sulfite oxidase deficiency-Reference-Cited by-同舟云学术

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A compound heterozygote case of isolated sulfite oxidase deficiency

Published:2017-09 Issue: Volume:12 Page:99-102
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Brumaru Daniel^ORCID,Guerin Eric,Voegeli Anne-Claire,Eyer Didier,Maitre Michel

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference12 articles.

1. Purification and properties of hepatic sulfite oxidase;MacLeod;J. Biol. Chem.,1961

2. Sulfite oxidizing enzymes;Feng;Biochim. Biophys. Acta,2007

3. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase;Kisker;Cell,1997

4. Hepatic sulfite oxidase. Congruency in mitochondria of prosthetic groups and activity;Cohen;J. Biol. Chem.,1972

5. Electron transfer in sulfite oxidase: effects of pH and anions on transient kinetics;Sullivan;Biochemistry,1993

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency;Clinica Chimica Acta;2022-07

2. Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family;Frontiers in Genetics;2021-05-07

3. Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree;Molecular Genetics & Genomic Medicine;2021-01-06

4. The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models;Neurotoxicity Research;2018-12-05

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