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  • Drovandi, Stefania; Lipska-Ziętkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schreuder, Michiel F.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Liu, Cuihua; Sun, Shuzhen; Deng, Fang; Wang, Xiaowen; Clavé, Stéphanie; Stańczyk, Małgorzata; Bałasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna Kristina; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Serna Higuita, Lina Maria; Schaefer, Franz; Gheissari, Alaleh; Nigmatullina, Nazym; Tkaczyk, Marcin; Borzecka, Halina; Bogdanovic, Radovan; Mir, Sevgi; Klopstock, Thomas; Prokisch, Holger; Kornblum, Cornelia; Liu, Cui-Hua; Sun, Shu-Zhen; Dong, Yang; Wang, Xiao-Wen; Luan, Jiang-Wei (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Primary Coenzyme Q10 (CoQ10) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ10 biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising ...
  • Drovandi, Stefania; Lipska-Ziętkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Ziętkiewicz, Szymon; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schijvens, Anne M.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Deng, Fang; Rousset-Rouviere, Caroline; Stańczyk, Małgorzata; Bałasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna Kristina; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Schaefer, Franz (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Primary 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 ...