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[The criteria of early detection of biotinidase deficiency-based epilepsy].
Malov, A G; Vasileva, E S; Serebrennikova, E B.
Afiliação
  • Malov AG; Vagner Perm State Academy of Medicine, Perm.
  • Vasileva ES; Vagner Perm State Academy of Medicine, Perm.
  • Serebrennikova EB; Vagner Perm State Academy of Medicine, Perm.
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência de Biotinidase / Epilepsia Idioma: Ru Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência de Biotinidase / Epilepsia Idioma: Ru Ano de publicação: 2016 Tipo de documento: Article