Epilepsy in biotinidase deficiency
| Autor: | A. G. Malov, E. S. Vasilyeva, E. B. Serebrennikova |
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| Jazyk: | ruština |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 59, Iss 5, Pp 63-68 (2016) |
| ISSN: | 2500-2228 1027-4065 |
| Popis: | The specific features of epilepsy are analyzed in three siblings with biotinidase deficiency. The first sibling aged 10 months died in status epilepticus. The second baby was diagnosed with the disease at the age of 5 months. In the third sibling, pathogenetic treatment was started at birth. Emphasis is laid on the importance of early diagnosis and prompt therapy with biotin. |
| Databáze: | OpenAIRE |
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