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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)
| Title: | Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) | Authors: | Balasubramaniam, Shanti; Lewis, B.; Mock, D. M.; Said, H. M.; Tarailo Graovac, Maja  ; Mattman, A.; van, Karnebeek C. D.; Thorburn, D. R.; Rodenburg, R. J.; Christodoulou, J. |
Issue Date: | 2016 | Publication: | JIMD Reports | ISSN: | 2192-8304  Search Idenfier |
Type: | Article | Collation: | str. 99-107 | DOI: | 10.1007/8904_2016_559 | WoS-ID: | 000405120800014 | Scopus-ID: | 2-s2.0-85042445284 | PMID: | 27450367 | PMCID: | PMC5413447 | URI: | https://enauka.gov.rs/handle/123456789/387498 | Metadata source: | Migrirano iz RIS podataka | M-category: | Mp. category will be shown later |
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