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Epilepsy and phenylketonuria: a case description and EEG-fMRI findings

Phenylketonuria (PKU) is characterized by phenylalanine accumulation due to phenylalanine hydroxylase deficiency. Up to 50% of PKU patients experience seizures. We evaluated an adult PKU patient who suffered from absences and primarily generalized tonic-clonic seizures, associated with generalized s...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Guida, Melania, Pesaresi, Ilaria, Fabbri, Serena, Sartucci, Ferdinando, Cosottini, Mirco, Giorgi, Filippo Sean
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: CIC Edizioni Internationali 2014
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4172251/
https://ncbi.nlm.nih.gov/pubmed/25014052
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