Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants
Overall, our study is the first large-scale country-wide selective screening for PD in Russia based on sequencing and GAA activity measurement and providing the most comprehensive overview of genetics of PD in this study population.
Authors
- Olga Y. Zharova
- Elena Vadimovna Basargina
- Ilya S. Zhanin (ORCID: https://orcid.org/0000-0003-1423-0379)
- Amina I. Gamzatova
- Tatyana V. Podkletnova (ORCID: https://orcid.org/0000-0001-6415-156X)
- Е. В. Сайфуллина (ORCID: https://orcid.org/0000-0001-9552-8948)
- Anastasia V. Yamshchikova (ORCID: https://orcid.org/0000-0002-6609-8923)
- Daria A. Chudakova (ORCID: https://orcid.org/0000-0002-9354-6824)
- Kirill V. Savostyanov (ORCID: https://orcid.org/0000-0003-4885-4171)
- E. Yu. Fedotova (ORCID: https://orcid.org/0000-0001-8070-7644)
- Аndrey P. Fisenko (ORCID: https://orcid.org/0000-0001-8586-7946)
- Nataliya A. Sdvigova (ORCID: https://orcid.org/0000-0002-5313-1237)
- Pakhomov Av
- С. В. Курбатов (ORCID: https://orcid.org/0000-0002-8886-5222)
- Olga Gilvanova
- Sergey Viktorovich Vasichkin
- Lydmila Kuzenkova
- A. A. Alexeeva
- D.S. Demianov (ORCID: https://orcid.org/0000-0002-4622-3010)
- E. P. Nuzhny
- AA Pushkov
- Albina Rinatovna Gabitova
- Maria Vasil’eva
- Anastasia Rusakova
- Natalia Mazanova
- Daria Andreeva
- Yulia Kutkova
- Olga Ergina
- Leyla Gandaeva
- Viktoria Chernikova
- Vyacheslav Dudin
- Elena Gaisina
- Alexey Sukhozhenko
- Alsy Ahunova
- Elena Noskova
- Olga Rohlenko
- Natalia Popkova
- Lubov Kyzina
- Olga Tihonova
- Elena Osipova
- Natalia Irinina
Institutions
- Russian Academy of Sciences (RU)
- Immanuel Kant Baltic Federal University (RU)
- Oman Medical College (OM)
- Voronezh State Medical Academy named after N.N. Burdenko (RU)
- Central Clinical Hospital and Polyclinic (RU)
- Moscow Clinical Scientific Center (RU)
- Ulyanovsk Regional Clinical Hospital (RU)
- Dagestan State Medical University (RU)
- Scientific Center of Family Health Problems and Human Reproduction (RU)
- Research Centre for Medical Genetics (RU)
- Samara State Medical University (RU)
- Ministry of Health (MN)
- Perinatal Institute (GB)
- City Clinical Hospital No 31 (RU)
- Arkhangel'skiy Klinicheskiy Onkologicheskiy Dispanser (RU)
- Federal Research Centre «Fundamentals of Biotechnology» of the Russian Academy of Sciences (RU)
- Center for Speech Pathology and Neurorehabilitation (RU)
- Scientific Center of Children's Health (RU)
- Research Center of Neurology (RU)
- Children's City Clinical Hospital №11 (RU)
- Ministry of Health (RW)
Publication Details
- Journal
- Frontiers in Molecular Biosciences
- Published
- 2026-01-29
- DOI
- https://doi.org/10.3389/fmolb.2025.1745925
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00