Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors.
Enemark JH
Journal of Inorganic Biochemistry, 2023
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
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Hong SY et al.
Journal of Personalized Medicine, 2020
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.
Misko AL et al.
Neurology. Genetics, 2020
Isolated sulfite oxidase deficiency.
Claerhout H et al.
Journal of Inherited Metabolic Disease, 2018
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 2014
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