Associated Papers
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
Kinsinger M et al.
Bmc Medical Genomics, 2024
39695700 (PubMed )
Supplement: 12920_2024_2027_MOESM1_ESM.zip › Supplementary › Supplementary_Online_Only_Table_1_MOCS2_6.2.24.xlsx › all_cases
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
Rapid exome sequencing for children with severe acute encephalopathy - A case series.
Habib C et al.
European Journal of Medical Genetics, 2024
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.
Yan W et al.
American Journal of Ophthalmology Case Reports, 2022
Molybdenum cofactor deficiency: A natural history.
Spiegel R et al.
Journal of Inherited Metabolic Disease, 2022
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation.
Abe Y et al.
Molecular Genetics and Metabolism Reports, 2021
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
Scelsa B et al.
Molecular Genetics & Genomic Medicine, 2019
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
Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.
Leimkuhler S et al.
The Journal of Biological Chemistry, 2003
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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