Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfi...

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Vydáno v:JIMD Rep
Hlavní autoři: Balasubramaniam, Shanti, Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., Christodoulou, J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413447/
https://ncbi.nlm.nih.gov/pubmed/27450367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_559
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