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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. Nesterova G, et al. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4. Clin J Am Soc Nephrol. 2013. PMID: 23293122 Free PMC article.
Cystinosis: the evolution of a treatable disease.
Nesterova G, Gahl WA. Nesterova G, et al. Pediatr Nephrol. 2013 Jan;28(1):51-9. doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18. Pediatr Nephrol. 2013. PMID: 22903658 Free PMC article. Review.
Nephropathic cystinosis: an international consensus document.
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Emma F, et al. Among authors: nesterova g. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. Nephrol Dial Transplant. 2014. PMID: 25165189 Free PMC article.
Skeletal Consequences of Nephropathic Cystinosis.
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT. Florenzano P, et al. Among authors: nesterova g. J Bone Miner Res. 2018 Oct;33(10):1870-1880. doi: 10.1002/jbmr.3522. Epub 2018 Jul 20. J Bone Miner Res. 2018. PMID: 29905968 Free article.
Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.
Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Tella SH, Fernandez de Castro L, Gafni RI, Wolf M, Jüppner H, Gales B, Wesseling-Perry K, Markovich D, Gahl WA, Salusky IB, Collins MT. Florenzano P, et al. Among authors: nesterova g. J Am Soc Nephrol. 2020 Sep;31(9):2184-2192. doi: 10.1681/ASN.2019111172. Epub 2020 Jul 6. J Am Soc Nephrol. 2020. PMID: 32631973 Free PMC article.
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.
McFadden JR, Tolete CDP, Huang Y, Macnamara E, Sept D, Nesterova G, Gahl WA, Sackett DL, Malicdan MCV. McFadden JR, et al. Among authors: nesterova g. Mol Genet Metab Rep. 2023 Jul 1;36:100990. doi: 10.1016/j.ymgmr.2023.100990. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37448631 Free PMC article.
Management of bone disease in cystinosis: Statement from an international conference.
Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Bechtold S, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D. Hohenfellner K, et al. Among authors: nesterova g. J Inherit Metab Dis. 2019 Sep;42(5):1019-1029. doi: 10.1002/jimd.12134. Epub 2019 Aug 5. J Inherit Metab Dis. 2019. PMID: 31177550 Free PMC article.
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K, Elenberg E, Ariceta G, Nesterova G, Soliman NA, Topaloglu R. Hohenfellner K, et al. Among authors: nesterova g. Cells. 2022 Mar 25;11(7):1109. doi: 10.3390/cells11071109. Cells. 2022. PMID: 35406673 Free PMC article. Review.
53 results