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Experience with enzyme replacement therapy and the management of adult patients with lysosomal storage diseases in Yakutia.
https://doi.org/10.25557/2073-7998.2025.12.122-124
Abstract
There is described the experience of long-term enzyme replacement therapy of adult patients with various lysosomal storage diseases-mucopolysaccharidosis Is, mucopolysaccharidosis type IVA, Fabry disease and the specifics of their management in the region.
Supporting agencies: State assignment of the Ministry of Science and Higher Education of the Russian Federation for the project “Genomics of the Arctic: diagnostics, prevention and treatment” (FSRG-2024-0001).
About the Authors
E. E. Gurinova
North-Eastern Federal University
Россия
Россия
A. L. Sukhomyasova
North-Eastern Federal University
Россия
Россия
R. N. Ivanova
North-Eastern Federal University; Republican Hospital No. 1-National Center of Medicine No. 1
Россия
Россия
I. A. Nikolaeva
Republican Hospital No. 1-National Center of Medicine No. 1
Россия
Россия
P. I. Golikova
North-Eastern Federal University
Россия
Россия
D. B. Kochkina
North-Eastern Federal University; Republican Hospital No. 1-National Center of Medicine No. 1
Россия
Россия
A. N. Luginova
North-Eastern Federal University; Republican Hospital No. 1-National Center of Medicine No. 1
Россия
Россия
S. N. Novgorodova
North-Eastern Federal University
Россия
Россия
V. M. Sofronova
North-Eastern Federal University
Россия
Россия
N. R. Everstova
North-Eastern Federal University
Россия
Россия
N. R. Maksimova
North-Eastern Federal University
Россия
Россия
References
1. Moiseev S.V., Fomin V.V. Fermentozamestitel’naya terapiya lizosomnykh bolezney nakopleniya [Enzyme Replacement Therapy for Lysosomal Storage Diseases]. Klinicheskaya farmakologiya i terapiya [Clinical Pharmacology and Therapy]. 2016;25 (1): 5-6. (In Russ.)
2. Moiseev S.V., Tao E.A., Moiseev A.S., Bulanov N.M. Pegunigalsidaza al’fa – novyy pegilirovannyy rekombinantnyy preparat al’fa-galaktozidazy dlya fermentozamestitel’noy terapii bolezni Fabri [Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme replacement therapy for Fabry disease]. Klinicheskaya farmakologiya i terapiya [Clinical Pharmacology and Therapy]. 2024;33 (3): 57-62. (In Russ.)
Review
For citations:
Gurinova E.E., Sukhomyasova A.L., Ivanova R.N., Nikolaeva I.A., Golikova P.I., Kochkina D.B., Luginova A.N., Novgorodova S.N., Sofronova V.M., Everstova N.R., Maksimova N.R. Experience with enzyme replacement therapy and the management of adult patients with lysosomal storage diseases in Yakutia. Medical Genetics. 2025;24(12):122-124. (In Russ.) https://doi.org/10.25557/2073-7998.2025.12.122-124
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