Associated Papers
Metformin restores mitochondrial bioenergetics and redox homeostasis through modulation of mitochondrial biogenesis and dynamics in patient derived cultured fibroblasts and an animal model of molybdenum cofactor deficiency.
Brondani M et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Schwahn BC et al.
Journal of Inherited Metabolic Disease, 2024
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Ferreira EA et al.
Genetics in Medicine Open, 2024
Molybdenum cofactor deficiency: A natural history.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Kingsmore SF et al.
Cold Spring Harbor Molecular Case Studies, 2020
Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
Hinderhofer K et al.
Journal of Inherited Metabolic Disease, 2017
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
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 › TableS9B
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Mills PB et al.
Journal of Inherited Metabolic Disease, 2012
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J et al.
Human Mutation, 2011
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J et al.
Human Mutation, 2003
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Reiss J et al.
Human Genetics, 1998
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