Biotinidase deficiency: result of treatment with biotin from age 12 years
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference5 articles.
1. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome;Baumgartner;Pediatr Res,1989
2. Worldwide survey of neonatal screening for biotinidase-deficiency;Wolf;J Inher Metab Dis,1991
3. Neonatal screening for biotinidase deficiency: results of a one-year pilot study;Heard;J Pediatr,1986
4. Characterization of seizures associated with biotinidase deficiency;Salbert;Neurology,1993
5. Déficit en biotinidase;Heron;Arch Fr Pédiatr,1993
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3. Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss;Molecular Genetics and Metabolism;2015-11
4. A girl with spastic tetraparesis associated with biotinidase deficiency;European Journal of Paediatric Neurology;2011-11
5. Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias;Medicina Clínica;2011-10
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