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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive disorder, which is caused by mutations in the SLC19A3 gene. BBGD typically causes (sub)acute episodes with encephalopathy and subsequent neurological deterioration. If untreated, the clinical course may be fatal. Our report on...

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Detalhes bibliográficos
Main Authors: Distelmaier, Felix, Huppke, Peter, Pieperhoff, Peter, Amunts, Katrin, Schaper, Jörg, Morava, Eva, Mayatepek, Ertan, Kohlhase, Jürgen, Karenfort, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4110325/
https://ncbi.nlm.nih.gov/pubmed/24166474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_271
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