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Select item 96152551.

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

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

Orphanet J Rare Dis. 2022; 17: 392. Published online 2022 Oct 27. doi: 10.1186/s13023-022-02544-x

PMCID:: PMC9615255

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Select item 86697782.

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

Andreea M Pavel, Carol M Stephens, Sean R Mathieson, Brian H Walsh, Brian McNamara, Niamh McSweeney, Geraldine B Boylan

Version 1. HRB Open Res. 2021; 4: 122. Published online 2021 Nov 23. doi: 10.12688/hrbopenres.13442.1

PMCID:: PMC8669778

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Select item 82080443.

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

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

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006091. doi: 10.1101/mcs.a006091

PMCID:: PMC8208044

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Select item 81395534.

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

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

Front Genet. 2021; 12: 607085. Published online 2021 May 7. doi: 10.3389/fgene.2021.607085

PMCID:: PMC8139553

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Select item 80771645.

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

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

Mol Genet Genomic Med. 2021 Feb; 9(2): e1590. Published online 2021 Jan 6. doi: 10.1002/mgg3.1590

PMCID:: PMC8077164

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Select item 79753066.

Isolated Sulfite Oxidase Deficiency: MR Imaging Features

Arthur B. Dublin, John K. Hald, Sandra L. Wootton-Gorges

AJNR Am J Neuroradiol. 2002 Mar; 23(3): 484–485.

PMCID:: PMC7975306

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Select item 77844867.

Isolated sulfite oxidase deficiency: a founder mutation

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

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005900. doi: 10.1101/mcs.a005900

PMCID:: PMC7784486

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Select item 69271728.

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

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

BMC Pediatr. 2019; 19: 510. Published online 2019 Dec 23. doi: 10.1186/s12887-019-1889-5

PMCID:: PMC6927172

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Select item 55019159.

A compound heterozygote case of isolated sulfite oxidase deficiency

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

Mol Genet Metab Rep. 2017 Sep; 12: 99–102. Published online 2017 Jul 6. doi: 10.1016/j.ymgmr.2017.06.009

PMCID:: PMC5501915

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Select item 547715910.

Prenatal brain disruption in isolated sulfite oxidase deficiency

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

Orphanet J Rare Dis. 2017; 12: 115. Published online 2017 Jun 19. doi: 10.1186/s13023-017-0668-3

PMCID:: PMC5477159

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Select item 33321211.

Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system.

J L Johnson, K V Rajagopalan

J Clin Invest. 1976 Sep; 58(3): 551–556. doi: 10.1172/JCI108500

PMCID:: PMC333212

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Select item 771130212.

The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H₂S metabolism

Anna-Theresa Mellis, Albert L. Misko, Sita Arjune, Ye Liang, Katalin Erdélyi, Tamás Ditrói, Alexander T. Kaczmarek, Peter Nagy, Guenter Schwarz

Redox Biol. 2021 Jan; 38: 101800. Published online 2020 Nov 24. doi: 10.1016/j.redox.2020.101800

PMCID:: PMC7711302

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Select item 499345113.

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

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

Eur J Paediatr Neurol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Eur J Paediatr Neurol. 2016 Sep; 20(5): 714–722. Published online 2016 May 30. doi: 10.1016/j.ejpn.2016.05.011

PMCID:: PMC4993451

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Select item 449595914.

Kinetic Results for Mutations of Conserved Residues H304 and R309 of Human Sulfite Oxidase Point to Mechanistic Complexities

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

Metallomics. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Metallomics. 2014 Sep; 6(9): 1664–1670. doi: 10.1039/c4mt00099d

PMCID:: PMC4495959

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Select item 2773815.

Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme

Robert M. Garrett, Jean L. Johnson, Tyler N. Graf, Annette Feigenbaum, K. V. Rajagopalan

Proc Natl Acad Sci U S A. 1998 May 26; 95(11): 6394–6398. doi: 10.1073/pnas.95.11.6394

PMCID:: PMC27738

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Select item 804931016.

Isomerization of Asp is essential for assembly of amyloid-like fibrils of αA-crystallin-derived peptide

Kosuke Magami, Naomi Hachiya, Kazuo Morikawa, Noriko Fujii, Takumi Takata

PLoS One. 2021; 16(4): e0250277. Published online 2021 Apr 15. doi: 10.1371/journal.pone.0250277

PMCID:: PMC8049310

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Select item 390842417.

Constitutive and Nitrogen Catabolite Repression-sensitive Production of Gat1 Isoforms

Rajendra Rai, Jennifer J. Tate, Isabelle Georis, Evelyne Dubois, Terrance G. Cooper

J Biol Chem. 2014 Jan 31; 289(5): 2918–2933. Published online 2013 Dec 9. doi: 10.1074/jbc.M113.516740

PMCID:: PMC3908424

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Select item 359929318.

An Integrated Proteomic Analysis of Major Isoaspartyl-Containing Proteins in the Urine of Wild Type and Protein L-Isoaspartate O-Methyltransferase-Deficient Mice

Shujia Dai, Wenqin Ni, Alexander N. Patananan, Steven G. Clarke, Barry L. Karger, Zhaohui Sunny Zhou

Anal Chem. Author manuscript; available in PMC 2014 Feb 19.

Published in final edited form as: Anal Chem. 2013 Feb 19; 85(4): 2423–2430. Published online 2013 Feb 6. doi: 10.1021/ac303428h

PMCID:: PMC3599293

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Select item 206443219.

The RGD motif in fibronectin is essential for development but dispensable for fibril assembly

Seiichiro Takahashi, Michael Leiss, Markus Moser, Tomoo Ohashi, Tomoe Kitao, Dominik Heckmann, Alexander Pfeifer, Horst Kessler, Junichi Takagi, Harold P. Erickson, Reinhard Fässler

J Cell Biol. 2007 Jul 2; 178(1): 167–178. doi: 10.1083/jcb.200703021