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

por Voskoboeva, Elena, Semyachkina, Alla, Yablonskaya, Maria, Nikolaeva, Ekaterina
Publicado 2017

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

por Semyachkina, Alla Nikolaevna, Voskoboeva, Elena Yurievna, Nikolaeva, Ekaterina Alexandrovna, Zakharova, Ekaterina Yurievna
Publicado 2021

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

por Voskoboeva, Elena, Semyachkina, Alla, Miklyaev, Ochir, Gamzatova, Amina, Mikhaylova, Svetlana, Vashakmadze, Nato, Baydakova, Galina, Omzar, Olga, Pichkur, Natalia, Zakharova, Ekaterina, Kutsev, Sergey
Publicado 2022

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

por Giugliani, Roberto, Vieira, Taiane Alves, Carvalho, Clarissa Gutierrez, Muñoz-Rojas, Maria-Veronica, Semyachkina, Alla N., Voinova, Victoria Y., Richards, Susan, Cox, Gerald F., Xue, Yong
Publicado 2017

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

por Semyachkina, Alla Nikolaevna, Nikolaeva, Ekaterina Alexandrovna, Galeeva, Nailya Mansurovna, Polyakov, Alexander Vladimirovich, Kurnikova, Maria Andreevna, Belova, Vera Аlexandrovna, Shulyakova, Irina Valerievna, Dantsev, Ilya Sergeevich, Dzhivanshiryan, Goar Vladimirovna
Publicado 2021