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First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene
Authors:Savina Tincheva  Tihomir Todorov  Albena Todorova  Ralica Georgieva  Dimitar Stamatov  Iglika Yordanova  Tanya Kadiyska  Bilyana Georgieva  Maria Bojidarova  Genoveva Tacheva  Ivan Litvinenko  Vanyo Mitev
Institution:1. Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria
2. Genetic-Medico Diagnostic Laboratory ‘‘Genica’’, 90 “Tsar Asen” Str., 1463, Sofia, Bulgaria
3. Neonatology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria
4. Child Neurology Clinic, Department of Pediatrics, University Pediatric Hospital, Sofia, Bulgaria
Abstract:
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