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
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Molybdenum Cofactor Deficiency in Humans.
Johannes L et al.
Molecules (basel, Switzerland), 2022
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
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
Lee EJ et al.
Cen Case Reports, 2021
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