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Št. zadetkov: 3
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
Stefania Drovandi, Beata Lipska-Zietkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Tanja Kersnik-Levart
Izvirni znanstveni članek
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
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
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
Antimeningococcal protection in patients receiving terminal complement inhibitors
Aleksandra Vujović, Franz Schaefer, Anne-Laure Sellier-Leclerc, Mattia Parolin, Víctor Pérez-Beltrán, Jonas Hofstetter, Olivia Boyer, Tanja Kersnik-Levart
Izvirni znanstveni članek
Oznake: antibiotic prophylaxis;antimeningococcal protection;antimeningococcal vaccination;atypical hemolytic uremic syndrome;complement inhibitors;meningococcal infection;
Introduction: C5 inhibitor (C5i) therapy markedly increases susceptibility to invasive meningococcal disease (IMD) by blocking the terminal complement pathway essential for defense against Neisseria meningitidis. Vaccination is recommended for all recipients, yet breakthrough infections persist. Ant ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 3
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