Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors.
Enemark JH
Journal of Inorganic Biochemistry, 2023
Molybdenum Cofactor Deficiency in Humans.
Johannes L et al.
Molecules (basel, Switzerland), 2022
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
Kaczmarek AT et al.
Journal of Inherited Metabolic Disease, 2022
Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.
Zhao J et al.
Frontiers in Genetics, 2021
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
Bender D et al.
Human Molecular Genetics, 2019
Isolated sulfite oxidase deficiency.
Claerhout H et al.
Journal of Inherited Metabolic Disease, 2018
Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers.
Sun Z et al.
Bmc Medical Genomics, 2014
24894543 (PubMed )
Supplement: 1755-8794-7-32-S4.xls › Sheet1
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