Associated Papers
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
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.
Lubout CMA et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
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
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
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J et al.
Human Mutation, 2003
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Johnson JL
Prenatal Diagnosis, 2003
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