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Biotinidase deficiency: result of treatment with biotin from age 12 years
E Casado de Frías1, J Campos-Castelló, J Careaga Maldonado
1Department of Pediatrics, Hospital Universitario San Carlos UCM, Madrid, Spain.
Abstract:
A boy with severe symptoms of biotinidase deficiency diagnosed at the age of 12 years showed a remarkable improvement of his neurological picture and normalization of brain magnetic resonance imaging abnormalities when prescribed oral biotin.