Associated Papers
Rapid exome sequencing for children with severe acute encephalopathy - A case series.
Habib C et al.
European Journal of Medical Genetics, 2024
Molybdenum cofactor deficiency: A natural history.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Zaki MS et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J et al.
Human Mutation, 2003
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.
Reiss J et al.
American Journal of Human Genetics, 1999
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