Successful maintenance of partial remission in a child with COQ2 nephropathy by coenzyme Q10 treatment

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10410881" target="_blank" >RIV/00216208:11130/20:10410881 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/20:10410881
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=I6_B.Hcun7" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=I6_B.Hcun7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/nep.13600" target="_blank" >10.1111/nep.13600</a>

Result language
angličtina
Original language name
Successful maintenance of partial remission in a child with COQ2 nephropathy by coenzyme Q10 treatment
Original language description
Steroid-resistant nephrotic syndrome is a rare kidney disease characterized by nephrotic proteinuria, hypoalbuminaemia, oedemas and dyslipidaemia. Searching for genetic forms of the disease among a cohort of 74 Czech and Slovak children, we identified siblings carrying a previously published homozygous causative variant in the COQ2 gene (c.683A>G, p.Asn228Ser).
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30217 - Urology and nephrology

Project
<a href="/en/project/NV15-31586A" target="_blank" >NV15-31586A: Individualization of therapy of rare nephropathies in children based on new molecular pathophysiology diagnostic</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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