Associated Papers
Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.
Lund AM et al.
Pediatrics, 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: review of 12 cases (MoCD and review).
Bayram E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J et al.
Human Mutation, 2011
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Sass JO et al.
Brain & Development, 2010
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Leimkühler S et al.
Human Genetics, 2005
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