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https://open.uns.ac.rs/handle/123456789/9143| Title: | Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes | Authors: | Vesna Stojanović Aleksandra Doronjski |
Keywords: | 3-methylglutaconic aciduria;gene mutation | Issue Date: | 1-Feb-2013 | Journal: | Journal of Pediatric Endocrinology and Metabolism | Abstract: | 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 |
| Appears in Collections: | MDF Publikacije/Publications |
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