Current Approaches to the Treatment of Hunter Syndrome

by Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev
Published 2018-10-01

Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young

by Dinara E. Ivanoshchuk, Elena V. Shakhtshneider, Oksana D. Rymar, Alla K. Ovsyannikova, Svetlana V. Mikhailova, Pavel S. Orlov, Yuliya I. Ragino, Mikhail I. Voevoda
Published 2020-08-01

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients

by Dinara E. Ivanoshchuk, Elena V. Shakhtshneider, Oksana D. Rymar, Alla K. Ovsyannikova, Svetlana V. Mikhailova, Veniamin S. Fishman, Emil S. Valeev, Pavel S. Orlov, Mikhail I. Voevoda
Published 2021-01-01

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

by Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Popov, Ekaterina I. Surkova, Peter A. Shatalov, Alexander S. Rakitko, Valery V. Ilinsky
Published 2020-07-01

Methylmalonic Aciduria in Children: Clinical Recommendations

by Alexander A. Baranov, Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, Elena Yu. Zakharova, Natal’ya G. Zvonkova, Lyudmila M. Kuzenkova, Sergei I. Kutsev, Svetlana V. Mikhailova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexander A. Pushkov, Kirill V. Savostianov, Liliya R. Selimzyanova
Published 2017-10-01