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

by E. A. Nikolaeva, A. N. Semyachkina
Published 2021-03-01

MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN

by E. A. Nikolaeva, A. N. Semyachkina
Published 2018-09-01

Heart damage in mucopolysaccharidosis

by M. I. Dovgan, Yu. M. Belozerov, A. N. Semyachkina
Published 2016-03-01

Alpha-mannosidosis in children: analysis of the observations and treatment options

by A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, M. A. Dantseva, E. Yu. Zakharova
Published 2020-09-01

Hypoxic syndrome in hereditary diseases of connective tissue

by E. A. Yurieva, E. S. Vozdvizhenskaya, M. V. Kushnareva, A. N. Semyachkina, M. N. Kharabadze, V. S. Sukhorukov
Published 2019-09-01

Dysmetabolic nephropathy in children with hereditary connective tissue dysplasia

by E. A. Yurieva, V. V. Dlin, E. S. Vozdvizhenskaya, V. S. Sukhorukov, A. N. Semyachkina, M. N. Kharabadze
Published 2020-03-01

Fabry’s disease in children: analysis of personal observations, treatment possibilities

by A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova
Published 2018-03-01

Beals syndrome (congenital contractural arachnodactyly) in children: Clinical symptoms, diagnosis, treatment, and prevention

by A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov
Published 2016-11-01

CLINICAL AND GENETIC CHARACTERISTICS OF MUCOLIPIDOSIS II AND IIIA TYPES IN CHILDREN

by A. N. Semyachkina, E. Yu. Voskoboeva, Т. M. Bukina, A. M. Bukina, E. A. Nikolaeva, I. S. Dantsev, M. N. Kharabadze, Yu. I. Davydova
Published 2017-06-01

IXa glycogenosis – diagnosis, features of clinical manifestations and treatment

by M. I. Yablonskaya, E. A. Nikolayeva, A. N. Semyachkina, O. N. Komarova, M. L. Babayan, M. N. Kharabadze, Yu. I. Davydova, A. R. Zabrodina
Published 2018-04-01

Glycogen storage disease type II (Pompe disease) in children

by A. N. Semyachkina, V. S. Sukhorukov, T. M. Bukina, M. I. Yablonskaya, E. S. Merkuryeva, M. N. Kharabadze, E. A. Proskurina, E. Yu. Zakharova, A. V. Brydun, P. A. Shatalov, P. V. Novikov
Published 2016-03-01

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

by A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova
Published 2019-05-01