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A novel variant in the SUOX gene in the oldest individual with late-onset isolated sulfite oxidase deficiency.

• Authors : Rizzi S; Cesaroni CA; Spagnoli C

• Source: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2024 Dec 16, pp. 1-8. Date of Electronic Publication: 2024 Dec 16.Publisher: published by Cambridge University Press for the Canadian Neurological Sciences Federation Country of Publication: England NLM ID: 0415227 Publication

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

• Authors : Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Subjects: Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/deficiency ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/genetics ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis Molybdenum cofactor deficiency; Sulfite oxidase deficiency

• Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].

• Authors : Yang Z; Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450053, China. .; Quan Y

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics; Child ; Female Sulfite oxidase deficiency

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Aug 10; Vol. 40 (8), pp. 986-989.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics.

• Authors : Hong SY; Division of Pediatrics Neurology, China Medical University, Children's Hospital, Taichung, Taiwan. Electronic address: .; Lin CH

Subjects: Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/genetics ; Epilepsy*/Epilepsy*/Epilepsy*/etiology ; Epilepsy*/Epilepsy*/Epilepsy*/genetics Sulfite oxidase deficiency; Molybdenum cofactor deficiency

• Source: Epilepsy & behavior : E&B [Epilepsy Behav] 2023 Jun; Vol. 143, pp. 109246. Date of Electronic Publication: 2023 May 13.Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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[Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency].

• Authors : Wang Y; Department of Medical Genetics, Weihai Hospital Affiliated to Qingdao University (Weihai Women and Children's Health Care Hospital), Weihai, Shandong 264200, China. .; Lan X

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/geneticsSulfite oxidase deficiency

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Feb 10; Vol. 40 (2), pp. 177-180.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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

• Authors : Kaczmarek AT; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.; Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

Subjects: Metalloproteins*/Metalloproteins*/Metalloproteins*/metabolism ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/deficiency ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/geneticsSulfite oxidase deficiency

• Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 169-182. Date of Electronic Publication: 2021 Nov 24.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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

• Authors : Li JT; Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China.; National Center for Neurological Disorders, Shanghai, China.

Subjects: Ectopia Lentis*; Humans ; Mutation/Mutation/Mutation/genetics Sulfite oxidase deficiency

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 27; Vol. 17 (1), pp. 392. Date of Electronic Publication: 2022 Oct 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Agricola

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Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.

• Authors : Zhang R; Division of Maternal-Fetal Medicine, Jinan University-affiliated Shenzhen Bao'an Women's and Children's Hospital, Shenzhen 518102, China.; Hao Y

Subjects: Infant, Newborn, Diseases* ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/deficiency ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/genetics Sulfite oxidase deficiency

• Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Jul 01; Vol. 532, pp. 115-122. Date of Electronic Publication: 2022 Jun 06.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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

• Authors : Pavel AM; INFANT Research Centre, University College Cork, Cork, Ireland.; Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.

• Source: HRB open research [HRB Open Res] 2021 Nov 23; Vol. 4, pp. 122. Date of Electronic Publication: 2021 Nov 23 (Print Publication: 2021).Publisher: Health Research Board Country of Publication: Ireland NLM ID: 101754913 Publication Model: eCollection Cited Medium: Internet ISSN:

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