Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

BACKGROUND: Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes. Four different genes are involved in Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests in the...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Scelsa, Barbara, Gasperini, Serena, Righini, Andrea, Iascone, Maria, Brazzoduro, Valeria G., Veggiotti, Pierangelo
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565584/
https://ncbi.nlm.nih.gov/pubmed/30900395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.657
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