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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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Detalles Bibliográficos
Autores principales:	Scelsa, Barbara, Gasperini, Serena, Righini, Andrea, Iascone, Maria, Brazzoduro, Valeria G., Veggiotti, Pierangelo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565584/ https://www.ncbi.nlm.nih.gov/pubmed/30900395 http://dx.doi.org/10.1002/mgg3.657

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