AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE

by Olga A. Klochkova, Alexey L. Kurenkov, Natalya V. Zhurkova, Kirill V. Savostyanov, Ilya S. Zhanin, Ayaz M. Mamedyarov, Ilona M. Tardova
Published 2017-09-01

Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case

by Ivan A. Kriulin, E. I. Alexeeva, Tatyana M. Dvoryakovskaya, Bella I. Bursagova, Kirill V. Savostyanov, Natalya V. Zhurkova, Alexander A. Pushkov, Anatoli V. Anikin, Artem M. Nesterov
Published 2019-11-01

Homocystinuria in Children

by Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina
Published 2018-01-01