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Page 1
Alport syndrome in a Kazakh family: a case study.
Zholdybayeva EV, Rakhimova SE, Baikara BT, Nigmatullina NB, Mustapayeva NM, Momynaliev KT. Zholdybayeva EV, et al. Among authors: nigmatullina nb. J Genet. 2014 Dec;93(3):855-8. doi: 10.1007/s12041-014-0448-y. J Genet. 2014. PMID: 25572247 No abstract available.
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
Baikara BT, Zholdybayeva EV, Rakhimova SE, Nigmatullina NB, Momynaliev KT, Ramanculov YM. Baikara BT, et al. Among authors: nigmatullina nb. PLoS One. 2015 Jul 13;10(7):e0132010. doi: 10.1371/journal.pone.0132010. eCollection 2015. PLoS One. 2015. PMID: 26168235 Free PMC article.
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. Kidney Int. 2022. PMID: 35643375 Free article.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J, Boyer O, Lipska-Ziętkiewicz B, Morinière V, Gribouval O, Heidet L, Balasz-Chmielewska I, Benetti E, Cloarec S, Csaicsich D, Decramer S, Gellermann J, Guigonis V, Hogan J, Bayazit AK, Melk A, Nigmatullina N, Oh J, Ozaltin F, Ranchin B, Tsimaratos M, Trautmann A, Antignac C, Schaefer F, Dorval G; PodoNet Network. Kachmar J, et al. Kidney Int Rep. 2024 Jan 10;9(4):973-981. doi: 10.1016/j.ekir.2024.01.005. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765578 Free PMC article.