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Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency
Molybdenum cofactor (Moco) deficiency is a rare neurometabolic disorder, characterized by neurological impairment and refractive seizures, due to toxic accumulation of sulfite in the brain. Earlier it was suggested that in Moco-deficient humans maternal clearance of neurotoxic metabolites prevents p...
Autores principales: | Sie, Sintha D., de Jonge, Rogier C. J., Blom, Henk J., Mulder, Margot F., Reiss, Jochen, Vermeulen, R. J., Peeters-Scholte, Cacha M. P. C. D. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757261/ https://www.ncbi.nlm.nih.gov/pubmed/20865336 http://dx.doi.org/10.1007/s10545-010-9198-z |
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