Please use this identifier to cite or link to this item:
https://open.uns.ac.rs/handle/123456789/9143
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Vesna Stojanović | en_US |
dc.contributor.author | Aleksandra Doronjski | en_US |
dc.date.accessioned | 2019-09-30T09:13:47Z | - |
dc.date.available | 2019-09-30T09:13:47Z | - |
dc.date.issued | 2013-02-01 | - |
dc.identifier.issn | 0334018X | en_US |
dc.identifier.uri | https://open.uns.ac.rs/handle/123456789/9143 | - |
dc.description.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. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Journal of Pediatric Endocrinology and Metabolism | en_US |
dc.subject | 3-methylglutaconic aciduria | en_US |
dc.subject | gene mutation | en_US |
dc.title | Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes | en_US |
dc.type | Journal/Magazine Article | en_US |
dc.identifier.doi | 10.1515/jpem-2012-0291 | - |
dc.identifier.pmid | 26 | - |
dc.identifier.scopus | 2-s2.0-84878333064 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/84878333064 | - |
dc.description.version | Published | en_US |
dc.relation.lastpage | 154 | en_US |
dc.relation.firstpage | 151 | en_US |
dc.relation.issue | 1-2 | en_US |
dc.relation.volume | 26 | en_US |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
crisitem.author.dept | Medicinski fakultet, Katedra za pedijatriju | - |
crisitem.author.parentorg | Medicinski fakultet | - |
Appears in Collections: | MDF Publikacije/Publications |
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