Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F04%3A00104197" target="_blank" >RIV/67985823:_____/04:00104197 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/04:00007845 RIV/00064165:_____/04:00000224
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
Original language description
Cytochrome c oxidase (COX) deficiency represents a heterogeneous group of disorders. Numerous proteins are required for efficient COX assembly and maintenance. In 26 children with isolated COX deficiency, we studied mutations in the SCO2 gene, which is involved in the copper transport into the inner mitochondrial membrane, and we analysed the clinical and biochemical consequences of SCO2 mutations
Czech name
Klinická, biochemická a molekulární analýza šesti pacientů s izolovaným defektem cytochrom c oxidázy v důsledku mutace v SCO2 genu
Czech description
Defekty cytochrom c oxidázy (COX) představují heterogenní skupinu onemocnění. K dokonalé asemblaci COX je potřeba mnoho proteinů. Studovali jsme mutaci v SCO2 genu, který se účastní transportu mědi do vnitřní mitochondriální membrány u 26 dětí s izolovaným defektem COX a analyzovali jsme klinické a biochemické důsledky SCO2 mutace
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2004
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Acta Paediatrica
ISSN
0803-5253
e-ISSN
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Volume of the periodical
93
Issue of the periodical within the volume
10
Country of publishing house
SE - SWEDEN
Number of pages
6
Pages from-to
1312-1317
UT code for WoS article
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EID of the result in the Scopus database
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