Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
Lee EJ et al.
Cen Case Reports, 2021
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
Scelsa B et al.
Molecular Genetics & Genomic Medicine, 2019
Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
Hinderhofer K et al.
Journal of Inherited Metabolic Disease, 2017
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