Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes

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Назив:	Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes
Аутори:	Vesna Stojanović Aleksandra Doronjski
Кључне речи:	3-methylglutaconic aciduria;gene mutation
Датум издавања:	1-феб-2013
Часопис:	Journal of Pediatric Endocrinology and Metabolism
Сажетак:	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
Налази се у колекцијама:	MDF Publikacije/Publications