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

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

MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN

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

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

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