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pro vyhledávání: '"Giulia Antunes Chieppe"'
Autor:
Larissa Magalhães de Paiva, Luigi Neves Reis, Rinara Grossi de Andrade, Shaira Salvadora Brito, Giulia Antunes Chieppe, Isabela Bernardino Freire
Publikováno v:
Residência Pediátrica, Vol 13, Iss 3 (2023)
Pyridoxine-dependent epilepsy (EDP) is an autosomal recessive disease clinically represented by recurrent seizures. The diagnosis is made by clinical observation, and may be assisted by electroencephalography (EEG) and biochemical and genetic tests.
Externí odkaz:
https://doaj.org/article/492dbdcb607043678f2b9adff4d7e0bb
