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Elena Yu. Voskoboeva

Observed names: E Voskoboeva, E Y Voskoboeva, E. Y. Voskoboeva, E. Yu Voskoboeva, E. Yu. Voskoboeva, E.Y. Voskoboeva, E.Yu. Voskoboeva, Elena Voskoboeva, Elena Y. Voskoboeva, Elena Yurievna Voskoboeva, Воскобоева Е.Ю., Е Ю Воскобоева
ORCID: 0000-0002-1713-5118
Observed ORCID: 0000-0002-1713-5118
OpenAlex ID: A5014252258
Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
1994 · Elena Voskoboeva, Dirk Isbrandt, et al. · Human Genetics · 45
Molecular Genetics of Mucopolysaccharidosis Type I: Mutation Analysis among the Patients of the Former Soviet Union
1998 · Elena Y. Voskoboeva, Xenia D. Krasnopolskaya, et al. · Molecular Genetics and Metabolism · 37
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients
1998 · S. Karsten, Elena Voskoboeva, et al. · Human Genetics · 36
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
2019 · A. N. Semyachkina, E. Y. Voskoboeva, et al. · BMC Medical Genetics · 31
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Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization
2017 · Elena Voskoboeva, Alla Semyachkina, et al. · Molecular Genetics and Metabolism Reports · 22
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Mucopolysaccharidosis type VI in R ussia, K azakhstan, and Central and Eastern E urope
2013 · Agnieszka Jurecka, Ekaterina Zakharova, et al. · Pediatrics International · 22
Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene
2013 · Agnieszka Jurecka, Ekaterina Zakharova, et al. · American Journal of Medical Genetics Part A · 17
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)
2021 · Alla Nikolaevna Semyachkina, Elena Yurievna Voskoboeva, et al. · BMC Medical Genomics · 15
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Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
2013 · Agnieszka Jurecka, Ekaterina Zakharova, et al. · Clinical Rheumatology · 12
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Analysis of Cell-free Fetal DNA in Plasma and Serum of Pregnant Women
2005 · T.V. Zolotukhina, N.V. Shilova, et al. · Journal of Histochemistry & Cytochemistry · 12
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Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology
2022 · E. Yu Voskoboeva, T. M. Bookina, et al. · Frontiers in Molecular Biosciences · 9
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Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions
1999 · Stanislav Karsten, Elena Voskoboeva, et al. · Human Mutation · 8
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Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
2022 · Elena Voskoboeva, Alla Semyachkina, et al. · Frontiers in Molecular Biosciences · 7
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Clinical and Genetic Characteristics of Mucolipidosis Ii and Iiia Types in Children
2017 · A. N. Semyachkina, E. Yu. Voskoboeva, et al. · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 7
Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.
1997 · X D Krasnopolskaya, T V Mirenburg, et al. · PubMed · 5
Unexplained female infertility and ART: clinic, embryology, genetic items
2022 · V.M. Zdanovskiy, K.V. Krasnopolskaya, et al. · Russian Journal of Human Reproduction · 4
Homocystinuria in Children
2017 · Alexander A. Baranov, Leyla S. Namazova-Baranova, et al. · Вопросы современной педиатрии · 4
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Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients
1998 · Stanislav L. Karsten, Elena Voskoboeva, et al. · Human Mutation · 4
Current Approaches in Management of Patients with Hypophosphatasia
2021 · Alexander A. Baranov, Leyla S. Namazova-Baranova, et al. · Педиатрическая фармакология · 3
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Alpha-mannosidosis in children: analysis of the observations and treatment options
2020 · A. N. Semyachkina, E. A. Nikolaeva, et al. · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 3
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Mucopolysaccharidosis I type: new management
2019 · S. V. Mikhaylova, A. N. Slateckay, et al. · Pediatric Hematology/Oncology and Immunopathology · 3
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Current Approaches to the Treatment of Hunter Syndrome
2018 · Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, et al. · Педиатрическая фармакология · 3
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The 444G/A and -1021 C/T polymorphisms of the dopamine-beta-hydroxylase gene modulate the trajectory of alcohol dependence development
2015 · A. O. Kibitov, E. Yu. Voskoboeva, et al. · S S Korsakov Journal of Neurology and Psychiatry · 3
Modern Approaches to the Management of Children with Mucopolysaccharidosis Type I
2022 · Galina V. Baidakova, Alexander A. Baranov, et al. · Педиатрическая фармакология · 2
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Duration of therapeutic remission alcohol dependence: a role of dopamine system genes polymorphism and family history density
2015 · A. O. Kibitov, N. A. Chuprova, et al. · S S Korsakov Journal of Neurology and Psychiatry · 2
Works count: 37
Citation count: 317
H-index: 10
I10-index: 10
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