Associated Papers
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
Molybdenum Cofactor Deficiency in Humans.
Johannes L et al.
Molecules (basel, Switzerland), 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
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
Mayr SJ et al.
Journal of Inherited Metabolic Disease, 2018
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