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Molybdenum Cofactor Deficiency in Humans

Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic–ischemic lesions. The molecular cause of the disease is the loss of sulfite oxidase (SOX) activity, one of four Moco-dependent...

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Detalles Bibliográficos
Autores principales:	Johannes, Lena, Fu, Chun-Yu, Schwarz, Günter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9607355/ https://www.ncbi.nlm.nih.gov/pubmed/36296488 http://dx.doi.org/10.3390/molecules27206896

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