Cargando…

Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review

Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the oxidative degradation of toxic sulfites is di...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pavel, Andreea M, Stephens, Carol M, Mathieson, Sean R, Walsh, Brian H, McNamara, Brian, McSweeney, Niamh, Boylan, Geraldine B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000 Research Limited 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669778/ https://www.ncbi.nlm.nih.gov/pubmed/34957373 http://dx.doi.org/10.12688/hrbopenres.13442.1

Ejemplares similares

Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
por: Stephens, Carol M, et al.
Publicado: (2022)

Conventional electroencephalography for accurate assessment of brain maturation in preterm infants following perinatal inflammation
por: Giraud, Antoine, et al.
Publicado: (2022)

Impact of therapeutic hypothermia on infantile spasms: an observational cohort study
por: Abu Dhais, Farah, et al.
Publicado: (2019)

Sulfite oxidase deficiency
por: Hundallah, Khalid, et al.
Publicado: (2016)

A compound heterozygote case of isolated sulfite oxidase deficiency
por: Brumaru, Daniel, et al.
Publicado: (2017)

QM/MM study of the reaction mechanism of sulfite oxidase
por: Caldararu, Octav, et al.
Publicado: (2018)

Prenatal brain disruption in isolated sulfite oxidase deficiency
por: Lee, Hsiu-Fen, et al.
Publicado: (2017)

Isolated sulfite oxidase deficiency: a founder mutation
por: Mhanni, Aizeddin A., et al.
Publicado: (2020)

Electrocatalytic sulfite biosensor with human sulfite oxidase co-immobilized with cytochrome c in a polyelectrolyte-containing multilayer
por: Spricigo, Roberto, et al.
Publicado: (2008)

Biofunctionalisation of Polypyrrole Nanowires Array with Sulfite Oxidase Coupled with the Integration of Platinum Nanoparticles for Ultrasensitive Amperometric Detection of Sulfite
por: Hussain, Shahid, et al.
Publicado: (2023)

Sulfite oxidase activity of cytochrome c: Role of hydrogen peroxide
por: Velayutham, Murugesan, et al.
Publicado: (2015)

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency
por: Misko, Albert L., et al.
Publicado: (2020)

Molecular mechanism of intramolecular electron transfer in dimeric sulfite oxidase
por: Eh, Malin, et al.
Publicado: (2022)

The History of Animal and Plant Sulfite Oxidase—A Personal View
por: Mendel, Ralf R., et al.
Publicado: (2023)

Overexpression of a Maize Sulfite Oxidase Gene in Tobacco Enhances Tolerance to Sulfite Stress via Sulfite Oxidation and CAT-Mediated H(2)O(2) Scavenging
por: Xia, Zongliang, et al.
Publicado: (2012)

Level of Sulfite Oxidase Activity Affects Sulfur and Carbon Metabolism in Arabidopsis
por: Oshanova, Dinara, et al.
Publicado: (2021)

The impact of perinatal inflammation on the electroencephalogram in preterm infants: a systematic review
por: Giraud, Antoine, et al.
Publicado: (2022)

Sulfite Oxidase Activity Is Essential for Normal Sulfur, Nitrogen and Carbon Metabolism in Tomato Leaves
por: Brychkova, Galina, et al.
Publicado: (2015)

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review
por: Tian, Maoqiang, et al.
Publicado: (2019)

The sulfite oxidase Shopper controls neuronal activity by regulating glutamate homeostasis in Drosophila ensheathing glia
por: Otto, Nils, et al.
Publicado: (2018)

Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development
por: Drögemüller, Cord, et al.
Publicado: (2010)

Overexpression of the Maize Sulfite Oxidase Increases Sulfate and GSH Levels and Enhances Drought Tolerance in Transgenic Tobacco
por: Xia, Zongliang, et al.
Publicado: (2018)

An illustrative case of endocardial fibroelastosis and recalcitrant intracardiac thrombosis: a case report
por: Ozdemir, Denizhan, et al.
Publicado: (2019)

An Ingested Orthodontic Wire Fragment: A Case Report
por: Puryer, James, et al.
Publicado: (2016)

Combustion of pneumoperitoneum: a rare danger in the operating room
por: McSweeney, William T, et al.
Publicado: (2019)

Lost in Transition: A Systematic Review of Neonatal Electroencephalography in the Delivery Room—Are We Forgetting an Important Biomarker for Newborn Brain Health?
por: Finn, Daragh, et al.
Publicado: (2017)

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree
por: Du, Peng, et al.
Publicado: (2021)

A prospective cohort study of the morbidity associated with operative vaginal deliveries performed by day and at night
por: Butler, Katherine, et al.
Publicado: (2014)

Free-radical chemistry of sulfite.
por: Neta, P, et al.
Publicado: (1985)

Sulfite Oxidation in Chlorobaculum Tepidum
por: Rodriguez, Jesse, et al.
Publicado: (2011)

Cadmium sulfite hexahydrate revisited
por: Baggio, Sergio, et al.
Publicado: (2008)

Early detection of brainstem herniation using electroencephalography monitoring – case report
por: Mullaguri, Naresh, et al.
Publicado: (2020)

Incidental splenosis discovered during robotic assisted radical prostatectomy: A case report
por: McNamara, Molly A., et al.
Publicado: (2022)

Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family
por: Zhao, Jiangang, et al.
Publicado: (2021)

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation
por: Li, Jia-Tong, et al.
Publicado: (2022)

Obtaining the necessary molybdenum cofactor for sulfite oxidase activity in the nematode Caenorhabditis elegans surprisingly involves a dietary source
por: Oliphant, Kevin D., et al.
Publicado: (2022)

Bilateral Transverse Mandibular Second Molars: A Case Report
por: Puryer, James, et al.
Publicado: (2016)

Situs inversus: an interesting case of spontaneous splenic rupture
por: Dastouri, Darius, et al.
Publicado: (2022)

New Insights into the Cystine-Sulfite Reaction
por: Zecchini, Matteo, et al.
Publicado: (2019)

Kinetic investigations of sulfite addition to flavanols
por: Bonaldo, Federico, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_bu67f7no5lpuv8ogsnv0v2had1