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
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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