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...

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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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Netherlands 2010
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757261/
https://ncbi.nlm.nih.gov/pubmed/20865336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9198-z
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