A. Semyachkina

发表

Clinical and genetic characteristics of Russian Marfan patients

A. Polyakov, M. Kharabadze, T. Adyan, 2015, Russian Journal of Genetics.

The peculiarities of polymorphism of XPD and XRCC1 repair genes in cells of down and Ehlers-Danlo syndrome patients characterized by increased radiosensitivity

L. V. Shulenina, V. Mikhailov, G. Zasukhina, 2011, Radiatsionnaia biologiia, radioecologiia.

Modern Approaches to the Management of Children with Mucopolysaccharidosis Type I

A. Baranov, E. Zakharova, O. Udalova, 2022, Pediatric pharmacology.

Glycogen storage disease type II (Pompe disease) in children

V. Sukhorukov, E. Zakharova, P. Shatalov, 2014 .

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

R. Giugliani, S. Richards, V. Voinova, 2017, Molecular genetics and metabolism reports.

Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

E. Nikolaeva, A. Semyachkina, 2021, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

E. Nikolaeva, E. Zakharova, A. Semyachkina, 2021, BMC medical genomics.

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology

S. Mikhaylova, G. Baydakova, E. Zakharova, 2022, Frontiers in Molecular Biosciences.

Current Approaches to the Treatment of Hunter Syndrome

E. Zakharova, S. Mikhailova, S. Kutsev, 2018, Pediatric pharmacology.

Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.

V. Biryukov, T. V. Zolotukhina, E. Karpova, 1991, Journal of inherited metabolic disease.

Comparison of the antimutagenic activities of natural and synthetic substances in irradiated repair-defective human cells

M. Alfimov, A. I. Vedernikov, G. Zasukhina, 2006, Doklady Biological sciences.

Differential Activity of Superoxide Dismutase Inhibitor in Human Cells under the Action of Radiation, Chemical Mutagens, and upon Radioadaptive Response

I. M. Vasilyeva, G. Zasukhina, A. Semyachkina, 2003, Russian Journal of Genetics.

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

G. Baydakova, E. Zakharova, S. Mikhaylova, 2022, Frontiers in Molecular Biosciences.

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization

E. Nikolaeva, A. Semyachkina, E. Voskoboeva, 2017, Molecular genetics and metabolism reports.

Diagnosis and treatment of orphan disease — homocystinuria and megaloblastic anemia, type cblG

E. Nikolaeva, S. V. Bochenkov, A. R. Zabrodina, 2023, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

Clinical and Molecular Characteristics of Russian Patients with Homocystinuria due to Cystathionine Beta-Synthase Deficiency

E. Nikolaeva, A. Semyachkina, E. Voskoboeva, 2018 .

Red flags to diagnose infiltrative cardiomyopathies

M. Shkolnikova, E. Reznik, D. Ustyuzhanin, 2023, Russian Journal of Cardiology.

Use of 4-trifluoromethylumbelliferyl-α-l-iduronide as a new substrate for detection of α-l-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease

V. Biryukov, T. V. Zolotukhina, E. Karpova, 1991, Journal of Inherited Metabolic Disease.

MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN

E. Nikolaeva, A. Semyachkina, 2018, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

Dysmetabolic nephropathy in children with hereditary connective tissue dysplasia

V. Sukhorukov, M. Kharabadze, V. Dlin, 2020, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

A rare combination of monogenic connective tissue diseases — Marfan and Stickler syndromes — in one patient

E. Nikolaeva, N. Shcherbakova, A. V. Smirnova, 2022, Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).

Modern Approaches to the Management of Children with Hypophosphatasia

T. T. Batysheva, S. Mikhaylova, E. Zakharova, 2023, Pediatric pharmacology.

Evaluation of clinical significance of с.2956G>A (rs112287730) polymorphism in FBN1 gene in Marfan syndrome

A. Polyakov, T. Adyan, V. Rumyantseva, 2017, Russian Journal of Genetics.

Clinical and genetic characteristics of Russian Marfan patients

A. Polyakov, M. Kharabadze, T. Adyan, 2015, Russian Journal of Genetics.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

E. Nikolaeva, A. Polyakov, M. Kurnikova, 2021, F1000Research.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases [version 1; peer review: awaiting peer review]

E. Nikolaeva, A. Polyakov, M. Kurnikova, 2021 .

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

I. Kanivets, E. Nikolaeva, G. Baydakova, 2019, BMC Medical Genetics.