Works matching Sulfite oxidase deficiency

Results: 46

Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy in Isolated Sulfite Oxidase Deficiency.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 10, p. 1214, doi. 10.1177/0883073807306260

By:

Hoffmann, Chen;
Ben-Zeev, Bruria;
Anikster, Yair;
Nissenkorn, Andreea;
Brand, Natan;
Kuint, Jacob;
Kushnir, Tammar

Publication type:

Article

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1590

By:

Du, Peng;
Hassan, Reem N.;
Luo, Hualei;
Xie, Jie;
Zhu, Yue;
Hu, Qiuyue;
Yan, Jin;
Jiang, Weiying

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.607085

By:

Zhao, Jiangang;
An, Yao;
Jiang, Haoxiang;
Wu, Haibin;
Che, Fengyu;
Yang, Ying

Publication type:

Article

Prenatal brain disruption in isolated sulfite oxidase deficiency.

Published in:

2017

By:

Hsiu-Fen Lee;
Ching-Shiang Chi;
Chi-Ren Tsai;
Hung-Chieh Chen;
I-Chun Lee;
Lee, Hsiu-Fen;
Chi, Ching-Shiang;
Tsai, Chi-Ren;
Chen, Hung-Chieh;
Lee, I-Chun

Publication type:

journal article

Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies.

Published in:

Cellular & Molecular Neurobiology, 2023, v. 43, n. 6, p. 2895, doi. 10.1007/s10571-023-01328-6

By:

Pramio, Júlia;
Grings, Mateus;
da Rosa, Amanda Gasparin;
Ribeiro, Rafael Teixeira;
Glanzel, Nícolas Manzke;
Signori, Marian Flores;
Marcuzzo, Manuela Bianchin;
Bobermin, Larissa Daniele;
Wyse, Angela T. S.;
Quincozes-Santos, André;
Wajner, Moacir;
Leipnitz, Guilhian

Publication type:

Article

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

Published in:

Neurotoxicity Research, 2019, v. 35, n. 2, p. 484, doi. 10.1007/s12640-018-9986-z

By:

Wyse, Angela T. S.;
Grings, Mateus;
Wajner, Moacir;
Leipnitz, Guilhian

Publication type:

Article

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.

Published in:

2022

By:

Li, Jia-Tong;
Chen, Ze-Xu;
Chen, Xiang-Jun;
Jiang, Yong-Xiang

Publication type:

journal article

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2885, doi. 10.1093/hmg/ddz109

By:

Bender, Daniel;
Kaczmarek, Alexander Tobias;
Santamaria-Araujo, Jose Angel;
Stueve, Burkard;
Waltz, Stephan;
Bartsch, Deniz;
Kurian, Leo;
Cirak, Sebahattin;
Schwarz, Guenter

Publication type:

Article

Isolated sulfite oxidase deficiency: a founder mutation.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900

By:

Mhanni, Aizeddin A.;
Greenberg, Cheryl R.;
Spriggs, Elizabeth L.;
Agatep, Ronald;
Sisk, Reena Ray;
Prasad, Chitra

Publication type:

Article

Lens Subluxation in a Child With Isolated Sulfite Oxidase Deficiency.

Published in:

2009

By:

Pilling, Rachel;
Varga, Zsolt;
Long, Vernon

Publication type:

Image

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

Published in:

2019

By:

Tian, Maoqiang;
Qu, Yi;
Huang, Lingyi;
Su, Xiaojuan;
Li, Shiping;
Ying, Junjie;
Zhao, Fengyan;
Mu, Dezhi

Publication type:

journal article

Proton Magnetic Resonance Spectroscopy and Diffusion-Weighted Imaging in Isolated Sulfite Oxidase Deficiency.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 9, p. 801, doi. 10.1177/08830738060210090601

By:

Eichler, Florian;
Wen-Hann Tan;
Shih, Vivian E.;
Grant, P. Ellen;
Krishnamoorthy, Kalpathy

Publication type:

Article

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.

Published in:

2003

By:

Johnson, Jean L.

Publication type:

journal article

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 5, p. 433, doi. 10.1002/pd.335

By:

Johnson, J. L.;
Rajagopalan, K. V.;
Renier, W. O.;
Van der Burgt, I.;
Ruitenbeek, W.

Publication type:

Article

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006091

By:

Owen, Mallory J.;
Lenberg, Jerica;
Feigenbaum, Annette;
Gold, Jeffrey;
Chau, Kevin;
Bezares-Orin, Zaira;
Yan Ding;
Chowdhury, Shimul;
Kingsmore, Stephen F.

Publication type:

Article

Clinical and Imaging Observations in Isolated Sulfite Oxidase Deficiency.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 8, p. 1036, doi. 10.1177/0883073811401399

By:

Bindu, Parayil Sankaran;
Christopher, Rita;
Mahadevan, Anita;
Bharath, Rose Dawn

Publication type:

Article

Neurologic Injury in Isolated Sulfite Oxidase Deficiency.

Published in:

Canadian Journal of Neurological Sciences, 2014, v. 41, n. 1, p. 42, doi. 10.1017/S0317167100016243

By:

Bosley, Thomas M.;
Alorainy, Ibrahim A.;
Oystreck, Darren T.;
Hellani, Ali M.;
Seidahmed, Mohammed Z.;
Osman, Mohamed El Faki;
Sabry, Mohamed A.;
Rashed, Mohamed S.;
Al-Yamani, Eiman A.;
Abu-Amero, Khaled K.;
Salih, Mustafa A.

Publication type:

Article

Preimplantation Genetic Diagnosis in Isolated Sulfite Oxidase Deficiency.

Published in:

Canadian Journal of Neurological Sciences, 2013, v. 40, n. 1, p. 109, doi. 10.1017/S0317167100013081

By:

Salih, Mustafa A.;
Bosley, Thomas M.;
Alorainy, Ibrahim A.;
Sabry, Mohamed A.;
Rashed, Mohamed S.;
Al-Yamani, Eiman A.;
El-Akoum, Siham;
Mohamed, Sarar H.;
Abu-Amero, Khaled K.;
Hellani, Ali M.

Publication type:

Article

Infantile Spasms and Hyperekplexia Associated With Isolated Sulfite Oxidase Deficiency.

Published in:

JAMA Neurology, 2014, v. 71, n. 6, p. 782, doi. 10.1001/jamaneurol.2013.5083

By:

Holder Jr., J. Lloyd;
Agadi, Satish;
Reese, William;
Rehder, Catherine;
Quach, Michael M.

Publication type:

Article

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Published in:

Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9038

By:

Johnson, Jean L.;
Coyne, Katharine E.;
Garrett, Robert M.;
Zabot, Marie-Therese;
Dorche, Claude;
Kisker, Caroline;
Rajagopalan, K. V.

Publication type:

Article

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 598, doi. 10.1002/jimd.12730

By:

Schwahn, Bernd C.;
van Spronsen, Francjan;
Misko, Albert;
Pavaine, Julija;
Holmes, Victoria;
Spiegel, Ronen;
Schwarz, Guenter;
Wong, Flora;
Horman, Alistair;
Pitt, James;
Sass, Jörn Oliver;
Lubout, Charlotte

Publication type:

Article

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 169, doi. 10.1002/jimd.12454

By:

Kaczmarek, Alexander Tobias;
Bender, Daniel;
Gehling, Titus;
Kohl, Joshua Benedict;
Daimagüler, Hülya‐Sevcan;
Santamaria‐Araujo, José Angel;
Liebau, Max Christoph;
Koy, Anne;
Cirak, Sebahattin;
Schwarz, Guenter

Publication type:

Article

Isolated sulfite oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 101, doi. 10.1007/s10545-017-0089-4

By:

Claerhout, Helena;
Witters, Peter;
Régal, Luc;
Jansen, Katrien;
Van Hoestenberghe, Marie-Rose;
Breckpot, Jeroen;
Vermeersch, Pieter

Publication type:

Article

Oxygen reactivity of mammalian sulfite oxidase provides a concept for the treatment of sulfite oxidase deficiency.

Published in:

Biochemical Journal, 2015, v. 469, n. 2, p. 211, doi. 10.1042/BJ20140768

By:

Belaidi, Abdel A.;
Röper, Juliane;
Arjune, Sita;
Krizowski, Sabina;
Trifunovic, Aleksandra;
Schwarz, Guenter

Publication type:

Article

Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach.

Published in:

2016

By:

Aghanoori, Mohamad-Reza;
Shahriary, Ghazaleh Mohammadzadeh;
Safarpour, Mahdi;
Ebrahimi, Ahmad

Publication type:

Case Study

The History of Animal and Plant Sulfite Oxidase—A Personal View.

Published in:

Molecules, 2023, v. 28, n. 19, p. 6998, doi. 10.3390/molecules28196998

By:

Mendel, Ralf R.;
Schwarz, Günter

Publication type:

Article

Severe isolated sulfide oxidase deficiency with a novel mutation.

Published in:

Turkish Journal of Pediatrics, 2021, v. 63, n. 4, p. 716, doi. 10.24953/turkjped.2021.04.021

By:

Ergene, Meriç;
Yarar, Nuriye;
Öncel, Elif Perihan;
Sezer, Taner;
Çavdarlı, Büşranur;
Ecevit, İsmail Zafer;
Aydın, Halil İbrahim

Publication type:

Article

Genetics of Ectopia Lentis.

Published in:

Seminars in Ophthalmology, 2013, v. 28, n. 5/6, p. 313, doi. 10.3109/08820538.2013.825276

By:

Sadiq, Mohammad Ali;
Vanderveen, Deborah

Publication type:

Article

The effect of ingested sulfite on visual evoked potentials, lipid peroxidation, and antioxidant status of brain in normal and sulfite oxidase-deficient aged rats.

Published in:

Toxicology & Industrial Health, 2016, v. 32, n. 7, p. 1197, doi. 10.1177/0748233714552688

By:

Ozsoy, Ozlem;
Aras, Sinem;
Ozkan, Ayse;
Parlak, Hande;
Aslan, Mutay;
Yargicoglu, Piraye;
Agar, Aysel

Publication type:

Article

Kinetic results for mutations of conserved residues H304 and R309 of human sulfite oxidase point to mechanistic complexities.

Published in:

Metallomics, 2014, v. 6, n. 9, p. 1664, doi. 10.1039/c4mt00099d

By:

Davis, Amanda C.;
Johnson-Winters, Kayunta;
Arnold, Anna R.;
Tollin, Gordon;
Enemark, John H.

Publication type:

Article

Sulfite increases lipoperoxidation and decreases the activity of catalase in brain of rats.

Published in:

Metabolic Brain Disease, 2008, v. 23, n. 1, p. 123, doi. 10.1007/s11011-007-9073-2

By:

FÃ¡bria Chiarani;
Caren Bavaresco;
Carlos Dutra-Filho;
Carlos Netto;
Angela Wyse

Publication type:

Article

Ceruloplasmin, Copper, Selenium, Iron, Zinc, and Manganese Levels in Normal and Sulfite Oxidase Deficient Rat Plasma: Effects of Sulfite Exposure.

Published in:

Biological Trace Element Research, 2008, v. 123, n. 1-3, p. 202, doi. 10.1007/s12011-008-8105-z

By:

Emine Herken;
Erdogan Kocamaz;
Melek Kucukatay;
Huseyin Vural;
Hilmi Demirin;
Vural Kucukatay

Publication type:

Article

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH(Communicated by Peter Byers).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 569, doi. 10.1002/humu.10223

By:

Jochen Reiss;
Jean L. Johnson

Publication type:

Article

Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans.

Published in:

International Journal of Molecular Sciences, 2012, v. 13, n. 11, p. 15475, doi. 10.3390/ijms131115475

By:

Ichida, Kimiyoshi;
Amaya, Yoshihiro;
Okamoto, Ken;
Nishino, Takeshi

Publication type:

Article

Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 49, doi. 10.2147/TACG.S239917

By:

Martínez, MC Alonzo;
Cazorla, E;
Cánovas, E;
Anniuk, K;
Cores, AE;
Serrano, AM

Publication type:

Article

Covalent post-synthetic modification of MOFs as a fluorescent sensor for the efficient detection of the biomarker of cystinuria.

Published in:

Microchimica Acta, 2024, v. 191, n. 7, p. 1, doi. 10.1007/s00604-024-06519-6

By:

Guo, Hao;
Ren, Borong;
Peng, Liping;
Liu, Yinsheng;
Tian, Jiaying;
Xu, Jiaxi;
Yu, Zhiguo;
Hui, Yingfei;
Yang, Wu

Publication type:

Article

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

Published in:

Neurotoxicity Research, 2018, v. 34, n. 3, p. 693, doi. 10.1007/s12640-018-9934-y

By:

Grings, Mateus;
Parmeggiani, Belisa;
Moura, Alana Pimentel;
de Moura Alvorcem, Leonardo;
Wyse, Angela T. S.;
Wajner, Moacir;
Leipnitz, Guilhian

Publication type:

Article

Disruption of Energy Transfer and Redox Status by Sulfite in Hippocampus, Striatum, and Cerebellum of Developing Rats.

Published in:

Neurotoxicity Research, 2017, v. 32, n. 2, p. 264, doi. 10.1007/s12640-017-9732-y

By:

Moura Alvorcem, Leonardo;
Rosa, Mateus;
Glänzel, Nícolas;
Parmeggiani, Belisa;
Grings, Mateus;
Schmitz, Felipe;
Wyse, Angela;
Wajner, Moacir;
Leipnitz, Guilhian

Publication type:

Article

S-Sulfocysteine Induces Seizure-Like Behaviors in Zebrafish.

Published in:

Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00122

By:

Plate, Jennifer;
Sassen, Wiebke A.;
Hassan, Ahmed H.;
Lehne, Franziska;
Köster, Reinhard W.;
Kruse, Tobias

Publication type:

Article

Effect of Sulfite Treatment on Total Antioxidant Capacity, Total Oxidant Status, Lipid Hydroperoxide and Total Free Sulphydryl Groups Contents In Normal and Sulfite Oxidase Deficient Rats Plasma.

Published in:

Cell Membranes & Free Radical Research, 2008, v. 1, n. 1, p. 44

By:

Herken, Emine Nur;
Kocamaz, Erdogan;
Erel, Ozcan;
Çelik, Hakim;
Kucukatay, Vural

Publication type:

Article

Increased ROS levels, antioxidant defense disturbances and bioenergetic disruption induced by thiosulfate administration in the brain of neonatal rats.

Published in:

Metabolic Brain Disease, 2025, v. 40, n. 1, p. 1, doi. 10.1007/s11011-024-01510-9

By:

Glänzel, Nícolas Manzke;
da Rosa-Junior, Nevton Teixeira;
Signori, Marian F.;
de Andrade Silveira, Josyane;
Pinheiro, Camila Vieira;
Marcuzzo, Manuela Bianchin;
Campos-Carraro, Cristina;
da Rosa Araujo, Alex Sander;
Schiöth, Helgi B.;
Wajner, Moacir;
Leipnitz, Guilhian

Publication type:

Article

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.

Published in:

2024

By:

Sayed, Jamal;
Nasir, Abdallah;
Sayed, Ahmed Gamal;
Alghamdi, Omar A.;
Alsharif, Elaf Jameel

Publication type:

Case Study

Prenatal Brain Disruption in Molybdenum Cofactor Deficiency.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 4, p. 460, doi. 10.1177/0883073810383017

By:

Carmi-Nawi, Nirit;
Malinger, Gustavo;
Mandel, Hanna;
Ichida, Kimiyoshi;
Lerman-Sagie, Tally;
Lev, Dorit

Publication type:

Article

Molybdenum Cofactor Deficiency Presenting With Severe Metabolic Acidosis and Intracranial Hemorrhage.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 2, p. 155, doi. 10.1177/08830738050200021501

By:

Teksam, Ozlem;
Yurdakok, Murat;
Coskun, Turgay

Publication type:

Article

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Published in:

Developmental Medicine & Child Neurology, 2010, v. 52, n. 9, p. 868, doi. 10.1111/j.1469-8749.2010.03724.x

By:

GÜMÜŞ, HAKAN;
GHESQUIERE, STIJN;
PER, HÜSEYIN;
KONDOLOT, MEDA;
ICHIDA, KIMIYOSHI;
POYRAZOĞLU, GAMZE;
KUMANDAŞ, SEFER;
ENGELEN, JOHN;
DUNDAR, MUNIS;
ÇAĞLAYAN, AHMET OKAY

Publication type:

Article

Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate.

Published in:

Cells (2073-4409), 2023, v. 12, n. 12, p. 1557, doi. 10.3390/cells12121557

By:

Glänzel, Nícolas Manzke;
Parmeggiani, Belisa;
Grings, Mateus;
Seminotti, Bianca;
Brondani, Morgana;
Bobermin, Larissa D.;
Ribeiro, César A. J.;
Quincozes-Santos, André;
Vockley, Jerry;
Leipnitz, Guilhian

Publication type:

Article