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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...
Zapisane w:
| Wydane w: | JIMD Rep |
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| Główni autorzy: | , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Springer Berlin Heidelberg
2016
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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