Please use this identifier to cite or link to this item:
https://open.uns.ac.rs/handle/123456789/8138
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Vesna Stojanović | en_US |
dc.contributor.author | Johannes A Mayr | en_US |
dc.contributor.author | Wolfgang Sperl | en_US |
dc.contributor.author | Nenad Barišić | en_US |
dc.contributor.author | Aleksandra Doronjski | en_US |
dc.contributor.author | Gordana Milak | en_US |
dc.date.accessioned | 2019-09-30T09:06:50Z | - |
dc.date.available | 2019-09-30T09:06:50Z | - |
dc.date.issued | 2013-12-01 | - |
dc.identifier.issn | 3539504 | en_US |
dc.identifier.uri | https://open.uns.ac.rs/handle/123456789/8138 | - |
dc.description.abstract | Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2B gene. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Croatian Medical Journal | en_US |
dc.subject | Mitochondrial DNA depletion syndromes | en_US |
dc.title | Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: Case study | en_US |
dc.type | Journal/Magazine Article | en_US |
dc.identifier.doi | 10.3325/cmj.2013.54.579 | - |
dc.identifier.pmid | 54 | - |
dc.identifier.scopus | 2-s2.0-84892383403 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/84892383403 | - |
dc.description.version | Published | en_US |
dc.relation.lastpage | 584 | en_US |
dc.relation.firstpage | 579 | en_US |
dc.relation.issue | 6 | en_US |
dc.relation.volume | 54 | 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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