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
Molybdenum Cofactor Deficiency in Humans.
Johannes L et al.
Molecules (basel, Switzerland), 2022
The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.
Arican P et al.
Pediatric Neurology, 2019
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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