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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Detaylı Bibliyografya
Asıl Yazarlar: Distelmaier, Felix, Huppke, Peter, Pieperhoff, Peter, Amunts, Katrin, Schaper, Jörg, Morava, Eva, Mayatepek, Ertan, Kohlhase, Jürgen, Karenfort, Michael
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2013
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Article
Online Erişim: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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