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Page 1
European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.
Bollerslev J, Rejnmark L, Zahn A, Heck A, Appelman-Dijkstra NM, Cardoso L, Hannan FM, Cetani F, Sikjær T, Formenti AM, Björnsdottir S, Schalin-Jantti C, Belaya Z, Gibb FW, Lapauw B, Amrein K, Wicke C, Grasemann C, Krebs M, Ryhänen EM, Makay O, Minisola S, Gaujoux S, Bertocchio JP, Hassan-Smith ZK, Linglart A, Winter EM, Kollmann M, Zmierczak HG, Tsourdi E, Pilz S, Siggelkow H, Gittoes NJ, Marcocci C, Kamenicky P; 2021 PARAT Working Group. Bollerslev J, et al. Eur J Endocrinol. 2022 Jan 13;186(2):R33-R63. doi: 10.1530/EJE-21-1044. Print 2022 Feb 1. Eur J Endocrinol. 2022. PMID: 34863037 Free PMC article.
[Sanfilippo Syndrome].
Osipova LA, Kuzenkova LM, Namazova-Baranova LS, Gevorkyan AK, Podkletnova TV, Vashakmadze ND. Osipova LA, et al. Among authors: vashakmadze nd. Vestn Ross Akad Med Nauk. 2015;(4):419-27. Vestn Ross Akad Med Nauk. 2015. PMID: 26710524 Review. Russian.
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Voskoboeva E, Semyachkina A, Miklyaev O, Gamzatova A, Mikhaylova S, Vashakmadze N, Baydakova G, Omzar O, Pichkur N, Zakharova E, Kutsev S. Voskoboeva E, et al. Among authors: vashakmadze n. Front Mol Biosci. 2022 Jan 18;8:780184. doi: 10.3389/fmolb.2021.780184. eCollection 2021. Front Mol Biosci. 2022. PMID: 35118118 Free PMC article.
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).
Stepien KM, Gevorkyan AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Tol G, Del Toro Riera M, Vashakmadze ND, Lampe C. Stepien KM, et al. Among authors: vashakmadze nd. Orphanet J Rare Dis. 2020 May 14;15(1):114. doi: 10.1186/s13023-020-01382-z. Orphanet J Rare Dis. 2020. PMID: 32410642 Free PMC article.
Transition of patients with mucopolysaccharidosis from paediatric to adult care.
Lampe C, McNelly B, Gevorkian AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Stepien KM, Vashakmadze ND, Del Toro M. Lampe C, et al. Among authors: vashakmadze nd. Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31687335 Free PMC article.
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA, Savost'anov KV, Kuzenkova LM, Gevorkyan AK, Pushkov AA, Nikitin AG, Pakhomov AV, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Mayansky NA, Namazova-Baranova LS, Baranov AA. Chistiakov DA, et al. Among authors: vashakmadze nd. Clin Chim Acta. 2014 Sep 25;436:112-20. doi: 10.1016/j.cca.2014.05.010. Epub 2014 May 26. Clin Chim Acta. 2014. PMID: 24875751
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Voskoboeva EY, Bookina TM, Semyachkina AN, Mikhaylova SV, Vashakmadze ND, Baydakova GV, Zakharova EY, Kutsev SI. Voskoboeva EY, et al. Among authors: vashakmadze nd. Front Mol Biosci. 2022 Jan 24;8:783644. doi: 10.3389/fmolb.2021.783644. eCollection 2021. Front Mol Biosci. 2022. PMID: 35141277 Free PMC article.
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Chistiakov DA, Kuzenkova LM, Savost'anov KV, Gevorkyan AK, Pushkov AA, Nikitin AG, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Namazova-Baranova LS, Baranov AA. Chistiakov DA, et al. Among authors: vashakmadze nd. J Genet Genomics. 2014 Apr 20;41(4):197-203. doi: 10.1016/j.jgg.2014.01.007. Epub 2014 Feb 4. J Genet Genomics. 2014. PMID: 24780617