[The criteria of early detection of biotinidase deficiency-based epilepsy].
Zh Nevrol Psikhiatr Im S S Korsakova
; 116(4): 66-69, 2016.
Article
em Ru
| MEDLINE
| ID: mdl-27240052
OBJECTIVE: An analysis of clinical and paraclinical symptomatology of three cases of infant epilepsy due to biotinidase deficiency is presented. MATERIAL AND METHODS: The diagnosis took 4 months in the first case and 1 day in the last one. RESULTS AND CONCLUSION: It is emphasized that early diagnosisbased on knowing the reference signs of this inherited metabolic disease provides an opportunity to avoid patient's disability or death.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deficiência de Biotinidase
/
Epilepsia
Idioma:
Ru
Ano de publicação:
2016
Tipo de documento:
Article