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Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
Stefania Drovandi, Beata Lipska-Zietkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Tanja Kersnik-Levart
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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
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