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Oznake: coenzyme Q10;deficiency;supplementation therapy;end-stage kidney disease;ESKD;genetic kidney disease;hereditary;kidney survival;outcome;proteinuria reduction;
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral CoQ(10) supplementa ...
Leto: 2022 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake: coenzyme Q10;mitochondria;steroid-resistant nephrotic syndrome;
PPrimary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and ...
Leto: 2022 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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