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https://open.uns.ac.rs/handle/123456789/9143
Nаziv: | Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes | Аutоri: | Vesna Stojanović Aleksandra Doronjski |
Ključnе rеči: | 3-methylglutaconic aciduria;gene mutation | Dаtum izdаvаnjа: | 1-феб-2013 | Čаsоpis: | Journal of Pediatric Endocrinology and Metabolism | Sažetak: | The case study presents a 3-year-old boy diagnosed with a mild form of 3-methylglutaconic aciduria. During infancy and early childhood, he had lactic acidosis, dilated cardiomyopathy and failure to thrive with growth retardation. A genetic analysis revealed a mutated TMEM70 gene. | URI: | https://open.uns.ac.rs/handle/123456789/9143 | ISSN: | 0334018X | DOI: | 10.1515/jpem-2012-0291 |
Nаlаzi sе u kоlеkciјаmа: | MDF Publikacije/Publications |
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