Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. The disease is characterized by three stages: stage 1 is a sub-acute encephalopathy ofte...

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Dades bibliogràfiques
Publicat a:J Pediatr Genet
Autors principals: Savasta, Salvatore, Bassanese, Francesco, Buschini, Chiara, Foiadelli, Thomas, Trabatti, Chiara, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Simoncelli, Annamaria, Marseglia, Gian Luigi
Format: Artigo
Idioma:Inglês
Publicat: Georg Thieme Verlag KG 2019
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6499607/
https://ncbi.nlm.nih.gov/pubmed/31061755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1676603
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